-
2
-
-
0001211738
-
Glucosylceramide lipidoses: Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Beutler E, Grabowski GA. Glucosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1995; 2641-2670.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2641-2670
-
-
Beutler, E.1
Grabowski, G.A.2
-
3
-
-
0002373930
-
Glucosyl ceramide lipidoses: Gaucher's disease
-
Stanbury JB, Wyngaarden JB, Frederickson DS, eds. New York: McGraw-Hill
-
Frederickson DS, Sloan HR. Glucosyl ceramide lipidoses: Gaucher's disease. In: Stanbury JB, Wyngaarden JB, Frederickson DS, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1978; 730-759.
-
(1978)
The Metabolic Basis of Inherited Disease
, pp. 730-759
-
-
Frederickson, D.S.1
Sloan, H.R.2
-
4
-
-
0025948896
-
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews
-
Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 49:855-859, 1991.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 855-859
-
-
Zimran, A.1
Gelbart, T.2
Westwood, B.3
Grabowski, G.A.4
Beutler, E.5
-
5
-
-
0027442703
-
Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
-
Sibille A, Eng CM, Kim SJ, Pastures G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 52:1094-1101, 1993.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1094-1101
-
-
Sibille, A.1
Eng, C.M.2
Kim, S.J.3
Pastures, G.4
Grabowski, G.A.5
-
6
-
-
0021259436
-
Gaucher's disease: Unexpected diagnosis in three patients over seventy years old
-
Berrebi A, Wishnitzer R, Von-der-Walde U. Gaucher's disease: unexpected diagnosis in three patients over seventy years old. Nouv Rev Fr Hematol 26:201-203, 1984.
-
(1984)
Nouv Rev Fr Hematol
, vol.26
, pp. 201-203
-
-
Berrebi, A.1
Wishnitzer, R.2
Von-Der-Walde, U.3
-
7
-
-
0343590118
-
Gaucher's disease in 29 cases: Hematologic complications and effect of splenectomy
-
Medoff AS, Bayrd ED. Gaucher's disease in 29 cases: hematologic complications and effect of splenectomy. Isr. J. Med. Sci. 40:481-492, 1954.
-
(1954)
Isr. J. Med. Sci.
, vol.40
, pp. 481-492
-
-
Medoff, A.S.1
Bayrd, E.D.2
-
8
-
-
0017714695
-
Gaucher's disease in an asymptomatic 72-year-old
-
Beutler E. Gaucher's disease in an asymptomatic 72-year-old. J Am Med Assoc 237:2529, 1977.
-
(1977)
J Am Med Assoc
, vol.237
, pp. 2529
-
-
Beutler, E.1
-
9
-
-
0028875475
-
The clinical course of treated and untreated Gaucher disease: A study of 45 patients
-
Beutler E, Demina A, Laubscher K, Garver P, Gelbart T, Balicki D, Vaughan L. The clinical course of treated and untreated Gaucher disease: A study of 45 patients. Blood Cell Mol Dis 21:86-108, 1995.
-
(1995)
Blood Cell Mol Dis
, vol.21
, pp. 86-108
-
-
Beutler, E.1
Demina, A.2
Laubscher, K.3
Garver, P.4
Gelbart, T.5
Balicki, D.6
Vaughan, L.7
-
10
-
-
0020020286
-
Phenotypic manifestations of Gaucher disease: Clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients
-
Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan. JL. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Prog Clin Biol Res 95:33-65, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 33-65
-
-
Kolodny, E.H.1
Ullman, M.D.2
Mankin, H.J.3
Raghavan, S.S.4
Topol, J.5
Sullivan, J.L.6
-
11
-
-
0021615194
-
Hydrops fetalis associated with Gaucher disease
-
Sun CC, Panny S, Combs J, Gutberlett R. Hydrops fetalis associated with Gaucher disease. Pathol Res Pract 179:101-104, 1984.
-
(1984)
Pathol Res Pract
, vol.179
, pp. 101-104
-
-
Sun, C.C.1
Panny, S.2
Combs, J.3
Gutberlett, R.4
-
12
-
-
0026731660
-
Gaucher disease in the neonate: A distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene
-
Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 32:494-498, 1992.
-
(1992)
Pediatr Res
, vol.32
, pp. 494-498
-
-
Sidransky, E.1
Sherer, D.M.2
Ginns, E.I.3
-
13
-
-
0028098053
-
Mutation analysis of 28 Gaucher disease patients: The Australasian experience
-
Lewis BD, Nelson PV, Robertson EF, Morris PC. Mutation analysis of 28 Gaucher disease patients: the Australasian experience. Am J Med Genet 49:218-223, 1994.
-
(1994)
Am J Med Genet
, vol.49
, pp. 218-223
-
-
Lewis, B.D.1
Nelson, P.V.2
Robertson, E.F.3
Morris, P.C.4
-
14
-
-
0026778029
-
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
-
Tybulewicz VLJ, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, Mintzer KA, Westphal H, Mulligan RC, Ginns EI. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357:407-412, 1992.
-
(1992)
Nature
, vol.357
, pp. 407-412
-
-
Tybulewicz, V.L.J.1
Tremblay, M.L.2
LaMarca, M.E.3
Willemsen, R.4
Stubblefield, B.K.5
Winfield, S.6
Zablocka, B.7
Sidransky, E.8
Martin, B.M.9
Huang, S.P.10
Mintzer, K.A.11
Westphal, H.12
Mulligan, R.C.13
Ginns, E.I.14
-
15
-
-
0027451553
-
Isolated horizontal supranuclear gaze palsy as a marker for severe systemic involement in Gaucher's disease
-
Patterson MC, Horowitz M, Abel RB, Currie JN, Brady RO, Barton NW. Isolated horizontal supranuclear gaze palsy as a marker for severe systemic involement in Gaucher's disease. Neurology 43:1993-1997, 1993.
-
(1993)
Neurology
, vol.43
, pp. 1993-1997
-
-
Patterson, M.C.1
Horowitz, M.2
Abel, R.B.3
Currie, J.N.4
Brady, R.O.5
Barton, N.W.6
-
16
-
-
0020410023
-
Hematological findings in the Norrbottnian type of Gaucher disease
-
Tibblin E, Dreborg S, Erikson A, Häkansson G, Svennerholm L. Hematological findings in the Norrbottnian type of Gaucher disease. Eur J Pediatr 139:187-191, 1982.
-
(1982)
Eur J Pediatr
, vol.139
, pp. 187-191
-
-
Tibblin, E.1
Dreborg, S.2
Erikson, A.3
Häkansson, G.4
Svennerholm, L.5
-
17
-
-
0025322367
-
Rapidly progressive type III Gaucher disease: Deterioration following partial splenectomy
-
Kyllerman M, Conradi N, Mänsson JE, Percy AK, Svennerholm L. Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy. Acta Paediatr Scand 79:448-453, 1990.
-
(1990)
Acta Paediatr Scand
, vol.79
, pp. 448-453
-
-
Kyllerman, M.1
Conradi, N.2
Mänsson, J.E.3
Percy, A.K.4
Svennerholm, L.5
-
18
-
-
0018903154
-
Gaucher disease - Norrbottnian type. I. General clinical description
-
Dreborg S, Erikson A, Hagberg B. Gaucher disease - Norrbottnian type. I. General clinical description. Eur J Pediatr 133:107-118, 1980.
-
(1980)
Eur J Pediatr
, vol.133
, pp. 107-118
-
-
Dreborg, S.1
Erikson, A.2
Hagberg, B.3
-
19
-
-
0022837350
-
Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment
-
Erikson A. Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 326:1-42, 1986.
-
(1986)
Acta Paediatr Scand Suppl
, vol.326
, pp. 1-42
-
-
Erikson, A.1
-
20
-
-
0023181407
-
Gaucher disease (type III): Intellectual profile
-
Erikson A, Karlberg J, Skogman AL, Dreborg S. Gaucher disease (type III): intellectual profile. Pediatr Neurol 3:87-91, 1987.
-
(1987)
Pediatr Neurol
, vol.3
, pp. 87-91
-
-
Erikson, A.1
Karlberg, J.2
Skogman, A.L.3
Dreborg, S.4
-
21
-
-
0021802912
-
Gaucher disease - Norrbottnian type. Ocular abnormalities
-
Copenh
-
Erikson A, Wahlberg I. Gaucher disease - Norrbottnian type. Ocular abnormalities. Acta Ophthalmol (Copenh) 63:221-225, 1985.
-
(1985)
Acta Ophthalmol
, vol.63
, pp. 221-225
-
-
Erikson, A.1
Wahlberg, I.2
-
23
-
-
0020014944
-
The pathology of Gaucher disease
-
Lee RE. The pathology of Gaucher disease. Prog Clin Biol Res 95:177-217, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 177-217
-
-
Lee, R.E.1
-
24
-
-
0020010321
-
The surgical management of Gaucher's disease
-
Aufses AH Jr, Salky BM. The surgical management of Gaucher's disease. Prog Clin Biol Res 95:603-616, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 603-616
-
-
Aufses A.H., Jr.1
Salky, B.M.2
-
25
-
-
0026508344
-
Enzyme augmentation in moderate to life-threatening Gaucher disease
-
Fallet S, Grace ME, Sibille A, Mendelson DS, Shapiro RS, Hermann G, Grabowski GA. Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res 31:496-502, 1992.
-
(1992)
Pediatr Res
, vol.31
, pp. 496-502
-
-
Fallet, S.1
Grace, M.E.2
Sibille, A.3
Mendelson, D.S.4
Shapiro, R.S.5
Hermann, G.6
Grabowski, G.A.7
-
26
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency - Macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. New Engl J Med 324:1464-1470, 1991.
-
(1991)
New Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
Di Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
Mankin, H.J.7
Murray, G.J.8
Parker, R.I.9
Argoff, C.E.10
-
27
-
-
0026014938
-
Enzyme replacement therapy for Gaucher disease
-
Beutler E, Kay A, Saven A, Garver P, Thurston D, Dawson A, Rosenbloom B. Enzyme replacement therapy for Gaucher disease. Blood 78:1183-1189, 1991.
-
(1991)
Blood
, vol.78
, pp. 1183-1189
-
-
Beutler, E.1
Kay, A.2
Saven, A.3
Garver, P.4
Thurston, D.5
Dawson, A.6
Rosenbloom, B.7
-
28
-
-
0022462206
-
Gaucher disease: Sonographic appearance of the spleen
-
Hill SC, Reinig JW, Barranger JA, Fink J, Shawker TH. Gaucher disease: sonographic appearance of the spleen. Radiology 160:631-634, 1986.
-
(1986)
Radiology
, vol.160
, pp. 631-634
-
-
Hill, S.C.1
Reinig, J.W.2
Barranger, J.A.3
Fink, J.4
Shawker, T.H.5
-
29
-
-
0026736574
-
Gaucher disease: Abdominal MR imaging findings in 46 patients
-
Hill SC, Damaska BM, Ling A, Patterson K, Di Bisceglie AM, Brady RO, Barton NW. Gaucher disease: abdominal MR imaging findings in 46 patients. Radiology 184:561-566, 1992.
-
(1992)
Radiology
, vol.184
, pp. 561-566
-
-
Hill, S.C.1
Damaska, B.M.2
Ling, A.3
Patterson, K.4
Di Bisceglie, A.M.5
Brady, R.O.6
Barton, N.W.7
-
30
-
-
0021253016
-
Immune thrombocytopenia and Gaucher's disease
-
Lester TJ, Grabowski GA, Goldblatt J, Leiderman IZ, Zaroulis CG. Immune thrombocytopenia and Gaucher's disease. Am J Med 77:569-571, 1984.
-
(1984)
Am J Med
, vol.77
, pp. 569-571
-
-
Lester, T.J.1
Grabowski, G.A.2
Goldblatt, J.3
Leiderman, I.Z.4
Zaroulis, C.G.5
-
31
-
-
0025181386
-
Autoimmune hemolytic anemia in Gaucher's disease
-
Haratz D, Manny N, Raz I. Autoimmune hemolytic anemia in Gaucher's disease. Klin Wochenschr 68:94-95, 1990.
-
(1990)
Klin Wochenschr
, vol.68
, pp. 94-95
-
-
Haratz, D.1
Manny, N.2
Raz, I.3
-
32
-
-
0020010318
-
Gaucher disease: Hepatic abnormalities in 25 patients
-
James SP, Stromeyer FW, Stowens DW, Barranger JA. Gaucher disease: hepatic abnormalities in 25 patients. Prog Clin Biol Res 95:131-142, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 131-142
-
-
James, S.P.1
Stromeyer, F.W.2
Stowens, D.W.3
Barranger, J.A.4
-
33
-
-
0026465017
-
Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients
-
Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 71:337-353, 1992.
-
(1992)
Medicine
, vol.71
, pp. 337-353
-
-
Zimran, A.1
Kay, A.2
Gelbart, T.3
Garver, P.4
Thurston, D.5
Saven, A.6
Beutler, E.7
-
34
-
-
0016796829
-
Combined portal and vena caval hypertension in Gaucher disease: The value of preoperative venography
-
Fellows KE, Grand RJ, Colodny AH, Orsini EN, Crocker AC. Combined portal and vena caval hypertension in Gaucher disease: the value of preoperative venography. J Pediatr 87:739-743, 1975.
-
(1975)
J Pediatr
, vol.87
, pp. 739-743
-
-
Fellows, K.E.1
Grand, R.J.2
Colodny, A.H.3
Orsini, E.N.4
Crocker, A.C.5
-
35
-
-
0025855375
-
Gaucher's disease complicated by bleeding esophageal varices and colonic infiltration by Gaucher cells
-
Henderson JM, Gilinsky NH, Lee EY, Greenwood MF. Gaucher's disease complicated by bleeding esophageal varices and colonic infiltration by Gaucher cells. Am J Gastroenterol 86:346-348, 1991.
-
(1991)
Am J Gastroenterol
, vol.86
, pp. 346-348
-
-
Henderson, J.M.1
Gilinsky, N.H.2
Lee, E.Y.3
Greenwood, M.F.4
-
36
-
-
0019364567
-
Liver abnormalities in patients with Gaucher's disease
-
James SP, Stromeyer FW, Chang C, Barranger JA. Liver abnormalities in patients with Gaucher's disease. Gastroenterology 80:126-133, 1981.
-
(1981)
Gastroenterology
, vol.80
, pp. 126-133
-
-
James, S.P.1
Stromeyer, F.W.2
Chang, C.3
Barranger, J.A.4
-
37
-
-
0025375069
-
Orthotopic liver transplantation in the treatment of complications of type 1 Gaucher disease
-
Carlson DE, Busuttil RW, Giudici TA, Barranger JA. Orthotopic liver transplantation in the treatment of complications of type 1 Gaucher disease. Transplantation 49:1192-1194, 1990.
-
(1990)
Transplantation
, vol.49
, pp. 1192-1194
-
-
Carlson, D.E.1
Busuttil, R.W.2
Giudici, T.A.3
Barranger, J.A.4
-
38
-
-
0019823526
-
Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures
-
Gery I, Zigler Jr JS, Brady RO, Barranger JA. Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. J Clin Invest 68:1182-1187, 1981.
-
(1981)
J Clin Invest
, vol.68
, pp. 1182-1187
-
-
Gery, I.1
Zigler J.S., Jr.2
Brady, R.O.3
Barranger, J.A.4
-
39
-
-
0017031539
-
Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease
-
Seligsohn U, Zitman D, Many A, Klibansky C. Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease. Isr J Med Sci 12:1448-1452, 1976.
-
(1976)
Isr J Med Sci
, vol.12
, pp. 1448-1452
-
-
Seligsohn, U.1
Zitman, D.2
Many, A.3
Klibansky, C.4
-
40
-
-
0022410240
-
Skeletal complications of Gaucher disease
-
Baltimore
-
Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA. Skeletal complications of Gaucher disease. Medicine (Baltimore) 64:310-322, 1985.
-
(1985)
Medicine
, vol.64
, pp. 310-322
-
-
Stowens, D.W.1
Teitelbaum, S.L.2
Kahn, A.J.3
Barranger, J.A.4
-
41
-
-
0022998276
-
Gaucher's disease type 1 : Assessment of bone involvement by CT and scintigraphy
-
Hermann G, Goldblatt J, Levy RN, Goldsmith SJ, Desnick RJ, Grabowski GA. Gaucher's disease type 1 : assessment of bone involvement by CT and scintigraphy. Am J Roentgenol 147:943-948, 1986.
-
(1986)
Am J Roentgenol
, vol.147
, pp. 943-948
-
-
Hermann, G.1
Goldblatt, J.2
Levy, R.N.3
Goldsmith, S.J.4
Desnick, R.J.5
Grabowski, G.A.6
-
43
-
-
0018243182
-
The orthopedic aspects of Gaucher disease
-
Goldblatt J, Sacks S, Beighton P. The orthopedic aspects of Gaucher disease. Clin Orthop 137:208-214, 1978.
-
(1978)
Clin Orthop
, vol.137
, pp. 208-214
-
-
Goldblatt, J.1
Sacks, S.2
Beighton, P.3
-
44
-
-
0016782694
-
Chronic Gaucher's disease: Radiological findings in 17 South African cases
-
Myers HS, Cremin BJ, Beighton P, Sacks S. Chronic Gaucher's disease: radiological findings in 17 South African cases. Br J Radiol 48:465-469, 1975.
-
(1975)
Br J Radiol
, vol.48
, pp. 465-469
-
-
Myers, H.S.1
Cremin, B.J.2
Beighton, P.3
Sacks, S.4
-
45
-
-
0022447909
-
Evaluation of Gaucher disease using magnetic resonance imaging
-
Rosenthal DI, Scott JA, Barranger J, Mankin HJ, Saini S, Brady TJ, Osier LK, Doppelt S. Evaluation of Gaucher disease using magnetic resonance imaging. J Bone Jt Surg [Am] 68:802-808, 1986.
-
(1986)
J Bone Jt Surg [Am]
, vol.68
, pp. 802-808
-
-
Rosenthal, D.I.1
Scott, J.A.2
Barranger, J.3
Mankin, H.J.4
Saini, S.5
Brady, T.J.6
Osier, L.K.7
Doppelt, S.8
-
46
-
-
0025273360
-
Skeletal complications of type I Gaucher disease: The magnetic resonance features
-
Cremin BJ, Davey H, Goldblatt J. Skeletal complications of type I Gaucher disease: the magnetic resonance features. Clin Radiol 41:244-247, 1990.
-
(1990)
Clin Radiol
, vol.41
, pp. 244-247
-
-
Cremin, B.J.1
Davey, H.2
Goldblatt, J.3
-
47
-
-
0020016195
-
South African variants of Gaucher disease
-
Goldblatt J, Beighton P. South African variants of Gaucher disease. Prog Clin Biol Res 95:95-106, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 95-106
-
-
Goldblatt, J.1
Beighton, P.2
-
48
-
-
0015546503
-
The hip in Gaucher's disease
-
Amstutz HC. The hip in Gaucher's disease. Clin Orthop 90:83-89, 1973.
-
(1973)
Clin Orthop
, vol.90
, pp. 83-89
-
-
Amstutz, H.C.1
-
49
-
-
0343590077
-
Legg-Perthes' disease: A syndrome of many etiologies? With clinical and roentgenographic findings in a case of Gaucher's disease
-
Draznin SZ, Singer K. Legg-Perthes' disease: A syndrome of many etiologies? With clinical and roentgenographic findings in a case of Gaucher's disease. Am J Roentgenol 60:490, 1948.
-
(1948)
Am J Roentgenol
, vol.60
, pp. 490
-
-
Draznin, S.Z.1
Singer, K.2
-
51
-
-
0020008495
-
Gaucher's disease: Orthopaedic considerations
-
Siffert RS, Platt A. Gaucher's disease: orthopaedic considerations. Prog Clin Biol Res 95:617-624, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 617-624
-
-
Siffert, R.S.1
Platt, A.2
-
52
-
-
0015363747
-
Gaucher's disease discovered by mandibular biopsy: Report of case
-
Bildman B, Martinez Jr M, Robinson LH. Gaucher's disease discovered by mandibular biopsy: report of case. J Oral Surg 30:510-512, 1972.
-
(1972)
J Oral Surg
, vol.30
, pp. 510-512
-
-
Bildman, B.1
Martinez M., Jr.2
Robinson, L.H.3
-
53
-
-
0025859578
-
Treatment of type 1 Gaucher's disease affecting bone with aminohydroxypropylidene bisphosphonate (pamidronate)
-
Ostlere L, Warner T, Meunier PJ, Hulme P, Hesp R, Watts RW, Reeve J. Treatment of type 1 Gaucher's disease affecting bone with aminohydroxypropylidene bisphosphonate (pamidronate). Q J Med 79:503-515, 1991.
-
(1991)
Q J Med
, vol.79
, pp. 503-515
-
-
Ostlere, L.1
Warner, T.2
Meunier, P.J.3
Hulme, P.4
Hesp, R.5
Watts, R.W.6
Reeve, J.7
-
54
-
-
0017754442
-
Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature
-
Schneider EL, Epstein CJ, Kaback MJ, Brandes D. Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. Am J Med 63:475-480, 1977.
-
(1977)
Am J Med
, vol.63
, pp. 475-480
-
-
Schneider, E.L.1
Epstein, C.J.2
Kaback, M.J.3
Brandes, D.4
-
55
-
-
0016814763
-
Central nervous system complication in a patient with chronic Gaucher's disease
-
Melamed E, Cohen C, Soffer D, Lavy S. Central nervous system complication in a patient with chronic Gaucher's disease. Eur Neurol 13:167-175, 1975.
-
(1975)
Eur Neurol
, vol.13
, pp. 167-175
-
-
Melamed, E.1
Cohen, C.2
Soffer, D.3
Lavy, S.4
-
56
-
-
0021245939
-
Spinal cord compression secondary to Gaucher's disease
-
Markin RS, Skultety FM. Spinal cord compression secondary to Gaucher's disease. Surg Neurol 21:341-346, 1984.
-
(1984)
Surg Neurol
, vol.21
, pp. 341-346
-
-
Markin, R.S.1
Skultety, F.M.2
-
57
-
-
0024543324
-
Spinal cord compression in type I Gaucher disease
-
Hermann G, Wagner LD, Gendal ES, Ragland RL, Ulin RI. Spinal cord compression in type I Gaucher disease. Radiology 170:147-148, 1989.
-
(1989)
Radiology
, vol.170
, pp. 147-148
-
-
Hermann, G.1
Wagner, L.D.2
Gendal, E.S.3
Ragland, R.L.4
Ulin, R.I.5
-
58
-
-
0027302227
-
Gaucher disease: Enzymology, genetics, and treatment
-
Grabowski GA. Gaucher disease: enzymology, genetics, and treatment. Adv Hum Genet 21:377-441, 1993.
-
(1993)
Adv Hum Genet
, vol.21
, pp. 377-441
-
-
Grabowski, G.A.1
-
59
-
-
0022494415
-
Type 2 and type 3 Gaucher disease: A morphological and biochemical study
-
Kaye EM, Ullman MD, Wilson ER, Barranger JA. Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol 20:223-230, 1986.
-
(1986)
Ann Neurol
, vol.20
, pp. 223-230
-
-
Kaye, E.M.1
Ullman, M.D.2
Wilson, E.R.3
Barranger, J.A.4
-
60
-
-
0029006757
-
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse
-
Willemsen R, Tybulewicz V, Sidransky E, Eliason WK, Martin BM, LaMarca ME, Reuser AJ, Tremblay M, Westphal H, Mulligan RC. A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol Chem Neuropathol 24:179-192, 1995.
-
(1995)
Mol Chem Neuropathol
, vol.24
, pp. 179-192
-
-
Willemsen, R.1
Tybulewicz, V.2
Sidransky, E.3
Eliason, W.K.4
Martin, B.M.5
LaMarca, M.E.6
Reuser, A.J.7
Tremblay, M.8
Westphal, H.9
Mulligan, R.C.10
-
62
-
-
0014348167
-
The fine structure of the cerebroside occurring in Gaucher's disease
-
Lee RE. The fine structure of the cerebroside occurring in Gaucher's disease. Proc Natl Acad Sci USA 61:484-489, 1968.
-
(1968)
Proc Natl Acad Sci USA
, vol.61
, pp. 484-489
-
-
Lee, R.E.1
-
63
-
-
0014575787
-
The morphogenesis of Gaucher cells investigated by electron microscopy
-
Pennelli N, Scarvilli F, Zacchello F. The morphogenesis of Gaucher cells investigated by electron microscopy. Blood 34:331-347, 1969.
-
(1969)
Blood
, vol.34
, pp. 331-347
-
-
Pennelli, N.1
Scarvilli, F.2
Zacchello, F.3
-
64
-
-
0014737350
-
A histochemical and electon microscopic study of Gaucher cells
-
Hibbs RG, Ferrans VJ, Cipriano PR, Tardiff KJ. A histochemical and electon microscopic study of Gaucher cells. Arch Pathol 89:137-153, 1970.
-
(1970)
Arch Pathol
, vol.89
, pp. 137-153
-
-
Hibbs, R.G.1
Ferrans, V.J.2
Cipriano, P.R.3
Tardiff, K.J.4
-
65
-
-
0014471149
-
Gaucher cells in chronic myelocytic leukemia: An acquired abnormality
-
Kattlove HE, Williams JC, Gaynor E, Spivack M, Bradley RM, Brady RO. Gaucher cells in chronic myelocytic leukemia: an acquired abnormality. Blood 33:379-390, 1969.
-
(1969)
Blood
, vol.33
, pp. 379-390
-
-
Kattlove, H.E.1
Williams, J.C.2
Gaynor, E.3
Spivack, M.4
Bradley, R.M.5
Brady, R.O.6
-
66
-
-
0018786507
-
Carbon 13 NMR spectroscopy of a cerebrosides: Proof of the ß-pyranosyl structure of D-glucosylceramide
-
Koerner TA, Gary LW, Li S-C, Li Y-T. Carbon 13 NMR spectroscopy of a cerebrosides: proof of the ß-pyranosyl structure of D-glucosylceramide. J Biol Chem 254:2326-2328, 1979.
-
(1979)
J Biol Chem
, vol.254
, pp. 2326-2328
-
-
Koerner, T.A.1
Gary, L.W.2
Li, S.-C.3
Li, Y.-T.4
-
67
-
-
0343590072
-
The geometry of sphingosine
-
Mislow K. The geometry of sphingosine. Am Chem Soc 74:155, 1953.
-
(1953)
Am Chem Soc
, vol.74
, pp. 155
-
-
Mislow, K.1
-
68
-
-
0343154540
-
Biochemistry of the sphingolipids: IX. Configuration of the cerebrosidases
-
Carter HE, Fujino Y. Biochemistry of the sphingolipids: IX. Configuration of the cerebrosidases. J Biol Chem 21:879, 1956.
-
(1956)
J Biol Chem
, vol.21
, pp. 879
-
-
Carter, H.E.1
Fujino, Y.2
-
69
-
-
0021813371
-
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants
-
Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L. Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clin Genet 27:443-450, 1985.
-
(1985)
Clin Genet
, vol.27
, pp. 443-450
-
-
Nilsson, O.1
Grabowski, G.A.2
Ludman, M.D.3
Desnick, R.J.4
Svennerholm, L.5
-
70
-
-
0020047904
-
Characterization and quantitative determination of gangliosides and neutral glycosphingolipids in human liver
-
Nilsson O, Svennerholm L. Characterization and quantitative determination of gangliosides and neutral glycosphingolipids in human liver. J Lipid Res 23:327-334, 1982.
-
(1982)
J Lipid Res
, vol.23
, pp. 327-334
-
-
Nilsson, O.1
Svennerholm, L.2
-
71
-
-
0017358781
-
Blood glucosylceramide levels in Gaucher's disease and its distribution amongst lipoprotein fractions
-
Dawson G, Oh JY. Blood glucosylceramide levels in Gaucher's disease and its distribution amongst lipoprotein fractions. Clin Chim Acta 75:149-153, 1977.
-
(1977)
Clin Chim Acta
, vol.75
, pp. 149-153
-
-
Dawson, G.1
Oh, J.Y.2
-
72
-
-
0020566022
-
HPLC analysis of neutral glycolipids: An aid in the diagnosis of lysosomal storage disease
-
Strasberg PM, Warren I, Skomorowski MA, Lowden JA. HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease. Clin Chim Acta 132:29-41, 1983.
-
(1983)
Clin Chim Acta
, vol.132
, pp. 29-41
-
-
Strasberg, P.M.1
Warren, I.2
Skomorowski, M.A.3
Lowden, J.A.4
-
73
-
-
0020353159
-
Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between type I and type III
-
Nilsson O, Häkansson G, Dreborg S, Groth CG, Svennerholm L. Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III. Clin Genet 22:274-279, 1982.
-
(1982)
Clin Genet
, vol.22
, pp. 274-279
-
-
Nilsson, O.1
Häkansson, G.2
Dreborg, S.3
Groth, C.G.4
Svennerholm, L.5
-
74
-
-
0025833151
-
Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: Neuropathological and neurochemical findings
-
Berl
-
Conradi N, Kyllerman M, Mänsson JE, Percy AK, Svennerholm L. Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. Acta Neuropathol (Berl) 82:152-157, 1991.
-
(1991)
Acta Neuropathol
, vol.82
, pp. 152-157
-
-
Conradi, N.1
Kyllerman, M.2
Mänsson, J.E.3
Percy, A.K.4
Svennerholm, L.5
-
75
-
-
0020320060
-
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
-
Nilsson O, Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem 39:709-718, 1982.
-
(1982)
J Neurochem
, vol.39
, pp. 709-718
-
-
Nilsson, O.1
Svennerholm, L.2
-
76
-
-
0014359312
-
Splenic lipids in Gaucher's disease
-
Kennaway NG, Woolf LI. Splenic lipids in Gaucher's disease. J Lipid Res 9:755-765, 1968.
-
(1968)
J Lipid Res
, vol.9
, pp. 755-765
-
-
Kennaway, N.G.1
Woolf, L.I.2
-
77
-
-
0014441342
-
Lipid composition of the brain in infantile Gaucher's disease
-
French JH, Brotz M, Poser CM. Lipid composition of the brain in infantile Gaucher's disease. Neurology 19:81-86, 1969.
-
(1969)
Neurology
, vol.19
, pp. 81-86
-
-
French, J.H.1
Brotz, M.2
Poser, C.M.3
-
78
-
-
0027436065
-
Synthesis of novel fluorescent glycosphingolipids: Use in determining acid beta-glucosidase activity in situ and correlation with genotype in Gaucher disease
-
Agmon V, Cherbu S, Degan A, Grace ME, Grabowski GA, Gatt S. Synthesis of novel fluorescent glycosphingolipids: use in determining acid beta-glucosidase activity in situ and correlation with genotype in Gaucher disease. Biochim Biophys Acta 1170:72-79, 1993.
-
(1993)
Biochim Biophys Acta
, vol.1170
, pp. 72-79
-
-
Agmon, V.1
Cherbu, S.2
Degan, A.3
Grace, M.E.4
Grabowski, G.A.5
Gatt, S.6
-
79
-
-
0023217496
-
Human acid beta-glucosidase: Use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites
-
Osiecki-Newman K, Fabbro D, Legler G, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites. Biochim Biophys Acta 915:87-100, 1987.
-
(1987)
Biochim Biophys Acta
, vol.915
, pp. 87-100
-
-
Osiecki-Newman, K.1
Fabbro, D.2
Legler, G.3
Desnick, R.J.4
Grabowski, G.A.5
-
80
-
-
0021859754
-
Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologie studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients
-
Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologie studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Am J Med Genet 21:529-549, 1985.
-
(1985)
Am J Med Genet
, vol.21
, pp. 529-549
-
-
Grabowski, G.A.1
Goldblatt, J.2
Dinur, T.3
Kruse, J.4
Svennerholm, L.5
Gatt, S.6
Desnick, R.J.7
-
81
-
-
0023138332
-
Lysosphingolipids inhibit protein kinase C: Implications for the sphingolipidoses
-
Hannun YA, Bell RM. Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses. Science 235:670-675, 1987.
-
(1987)
Science
, vol.235
, pp. 670-675
-
-
Hannun, Y.A.1
Bell, R.M.2
-
82
-
-
0015508835
-
Electron microscopy and cytochemistry of Gaucher cells in chronic granulocytic leukaemia
-
Keyserlingk DG, Boll I, Albrecht M. Electron microscopy and cytochemistry of Gaucher cells in chronic granulocytic leukaemia. Klin Wochenschr 50:510-516, 1972.
-
(1972)
Klin Wochenschr
, vol.50
, pp. 510-516
-
-
Keyserlingk, D.G.1
Boll, I.2
Albrecht, M.3
-
83
-
-
0015373589
-
Acquired lipidosis: Gaucher-like cells and 'blue cells' in chronic granulocytic leukemia
-
Dosik H, Rosner F, Sawitsky A. Acquired lipidosis: Gaucher-like cells and 'blue cells' in chronic granulocytic leukemia. Semin Hematol 9:309-316, 1972.
-
(1972)
Semin Hematol
, vol.9
, pp. 309-316
-
-
Dosik, H.1
Rosner, F.2
Sawitsky, A.3
-
85
-
-
0023104850
-
Pseudo-Gaucher cells in the marrow of a patient with Hodgkin's disease
-
Zidar BL, Hartsock RJ, Lee RE, Glew RH, LaMarco KL, Pugh RP, Raju RN, Shackney SE. Pseudo-Gaucher cells in the marrow of a patient with Hodgkin's disease. Am J Clin Pathol 87:533-536, 1987.
-
(1987)
Am J Clin Pathol
, vol.87
, pp. 533-536
-
-
Zidar, B.L.1
Hartsock, R.J.2
Lee, R.E.3
Glew, R.H.4
LaMarco, K.L.5
Pugh, R.P.6
Raju, R.N.7
Shackney, S.E.8
-
86
-
-
0020373443
-
Acquired Gaucher's cells in Hodgkin's disease
-
Lee KS, Tobin MS, Chen KT, Ahmed F, Gomez-Leon G. Acquired Gaucher's cells in Hodgkin's disease. Am J Med 73:290-294, 1982.
-
(1982)
Am J Med
, vol.73
, pp. 290-294
-
-
Lee, K.S.1
Tobin, M.S.2
Chen, K.T.3
Ahmed, F.4
Gomez-Leon, G.5
-
87
-
-
0022635332
-
Pseudogaucher cells in Mycobacterium avium intracellulare infections in acquired immune deficiency syndrome (AIDS)
-
Sous OG, Belmonte AH, Ramaswamy G, Tchertkoff V. Pseudogaucher cells in Mycobacterium avium intracellulare infections in acquired immune deficiency syndrome (AIDS). Am J Clin Pathol 85:233-235, 1986.
-
(1986)
Am J Clin Pathol
, vol.85
, pp. 233-235
-
-
Sous, O.G.1
Belmonte, A.H.2
Ramaswamy, G.3
Tchertkoff, V.4
-
90
-
-
0017708011
-
Enzyme replacement therapy in Gaucher's disease: Large-scale purification of glucocerbrosidase suitable for human administration
-
Furbish FS, Blair HE, Shiloach J, Pentchev PG, Brady RO. Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerbrosidase suitable for human administration. Proc Natl Acad Sci USA 74:3560-3563, 1977.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 3560-3563
-
-
Furbish, F.S.1
Blair, H.E.2
Shiloach, J.3
Pentchev, P.G.4
Brady, R.O.5
-
91
-
-
0015805171
-
Isolation and characterization of glucocerebrosidase from human placental tissue
-
Pentchev PG, Brady RO, Hibbert SR, Gal AE, Shapiro D. Isolation and characterization of glucocerebrosidase from human placental tissue. J Biol Chem 248:5256-5261, 1973.
-
(1973)
J Biol Chem
, vol.248
, pp. 5256-5261
-
-
Pentchev, P.G.1
Brady, R.O.2
Hibbert, S.R.3
Gal, A.E.4
Shapiro, D.5
-
92
-
-
0014882816
-
The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes
-
Beutler E, Kuhl W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med 76:747-755, 1970.
-
(1970)
J Lab Clin Med
, vol.76
, pp. 747-755
-
-
Beutler, E.1
Kuhl, W.2
-
93
-
-
0018895371
-
Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease
-
Raghavan SS, Topol J, Kolodny EH. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Am J Hum Genet 32:158-173, 1980.
-
(1980)
Am J Hum Genet
, vol.32
, pp. 158-173
-
-
Raghavan, S.S.1
Topol, J.2
Kolodny, E.H.3
-
94
-
-
0018970238
-
Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease
-
Häkansson G, Dreborg S, Lindsten J, Svennerholm L. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease. Clin Genet 18:268-273, 1980.
-
(1980)
Clin Genet
, vol.18
, pp. 268-273
-
-
Häkansson, G.1
Dreborg, S.2
Lindsten, J.3
Svennerholm, L.4
-
95
-
-
0018972613
-
Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (type 3) of Gaucher disease
-
Svennerholm L, Häkansson G, Dreborg S. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (Type 3) of Gaucher disease. Clin Chim Acta 106:183-193, 1980.
-
(1980)
Clin Chim Acta
, vol.106
, pp. 183-193
-
-
Svennerholm, L.1
Häkansson, G.2
Dreborg, S.3
-
96
-
-
0019518367
-
An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease
-
Daniels LB, Glew RH, Diven WF, Lee RE, Radin NS. An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease. Clin Chim Acta 115:369-375, 1981.
-
(1981)
Clin Chim Acta
, vol.115
, pp. 369-375
-
-
Daniels, L.B.1
Glew, R.H.2
Diven, W.F.3
Lee, R.E.4
Radin, N.S.5
-
97
-
-
0019506295
-
Prenatal diagnosis of Gaucher disease. Assay of the beta-glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions
-
Svennerholm L, Häkansson G, Lindsten J, Wahlström J, Dreborg S, Prenatal diagnosis of Gaucher disease. Assay of the beta-glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions. Clin Genet 19:16-22, 1981.
-
(1981)
Clin Genet
, vol.19
, pp. 16-22
-
-
Svennerholm, L.1
Häkansson, G.2
Lindsten, J.3
Wahlström, J.4
Dreborg, S.5
-
98
-
-
0020009259
-
Gaucher type I (Ashkenazi) disease: Considerations for heterozygote detection and prenatal diagnosis
-
Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. Prog Clin Biol Res 95:573-595, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 573-595
-
-
Grabowski, G.A.1
Dinur, T.2
Gatt, S.3
Desnick, R.J.4
-
99
-
-
0018972613
-
Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (type 3) of Gaucher disease
-
Svennerholm L, Hakansson G, Dreborg S. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and hétérozygotes with the Norrbottnian type (Type 3) of Gaucher disease. Clin Chim Acta 106:183-193, 1980.
-
(1980)
Clin Chim Acta
, vol.106
, pp. 183-193
-
-
Svennerholm, L.1
Hakansson, G.2
Dreborg, S.3
-
100
-
-
0023903038
-
Mammalian glucocerebrosidase: Implications for Gaucher's disease
-
Glew RH, Basu A, LaMarco KL, Prence EM. Mammalian glucocerebrosidase: implications for Gaucher's disease. Lab Invest 58:5-25, 1988.
-
(1988)
Lab Invest
, vol.58
, pp. 5-25
-
-
Glew, R.H.1
Basu, A.2
LaMarco, K.L.3
Prence, E.M.4
-
101
-
-
0019972306
-
Gaucher type I (Ashkenazi) disease: A new method for heterozygote detection using a novel fluorescent natural substrate
-
Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate. Clin Chim Acta 124:123-135, 1982.
-
(1982)
Clin Chim Acta
, vol.124
, pp. 123-135
-
-
Grabowski, G.A.1
Dinur, T.2
Gatt, S.3
Desnick, R.J.4
-
102
-
-
0025695103
-
Acid beta-glucosidase: Enzymology and molecular biology of Gaucher disease
-
Grabowski GA, Gatt S, Horowitz M. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease. Crit Rev Biochem Mol Biol 25:385-414, 1990.
-
(1990)
Crit Rev Biochem Mol Biol
, vol.25
, pp. 385-414
-
-
Grabowski, G.A.1
Gatt, S.2
Horowitz, M.3
-
103
-
-
0024426498
-
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid ß-glucosidase gene
-
Theophilus BD, Latham T, Grabowski GA, Smith FI. Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid ß-glucosidase gene. Nucleic Acids Res 17:7707-7722, 1989.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 7707-7722
-
-
Theophilus, B.D.1
Latham, T.2
Grabowski, G.A.3
Smith, F.I.4
-
104
-
-
0024455533
-
Gaucher disease: Molecular heterogeneity and phenotype-genotype correlations
-
Theophilus B, Latham T, Grabowski GA, Smith FI. Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet 45:212-225, 1989.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 212-225
-
-
Theophilus, B.1
Latham, T.2
Grabowski, G.A.3
Smith, F.I.4
-
105
-
-
0025614914
-
The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR
-
Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR. Clin Chim Acta 194:161-166, 1990.
-
(1990)
Clin Chim Acta
, vol.194
, pp. 161-166
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
-
106
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
-
Beutler E, Gelbart T, Kuhl W, Sorge J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA 88:10544-10547, 1991.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10544-10547
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Sorge, J.4
West, C.5
-
107
-
-
0025601733
-
Prevalent and rare mutations among Gaucher patients
-
Eyal N, Wilder S, Horowitz M. Prevalent and rare mutations among Gaucher patients. Gene 96:277-283, 1990.
-
(1990)
Gene
, vol.96
, pp. 277-283
-
-
Eyal, N.1
Wilder, S.2
Horowitz, M.3
-
108
-
-
0025267551
-
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene
-
Firon N, Eyal N, Kolodny EH, Horowitz M. Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. Am J Hum Genet 46:527-532, 1990.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 527-532
-
-
Firon, N.1
Eyal, N.2
Kolodny, E.H.3
Horowitz, M.4
-
109
-
-
0026508333
-
Genetic diagnosis of Gaucher's disease
-
Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM. Genetic diagnosis of Gaucher's disease. Lancet 339:889-892, 1992.
-
(1992)
Lancet
, vol.339
, pp. 889-892
-
-
Mistry, P.K.1
Smith, S.J.2
Ali, M.3
Hatton, C.S.4
McIntyre, N.5
Cox, T.M.6
-
110
-
-
0015458249
-
Infantile (type II) Gaucher's disease: In utero diagnosis and fetal pathology
-
Schneider EL, Ellis WG, Brady RO, McCulloch JR, Epstein CJ. Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology. J Pediatr 81:1134-1139, 1972.
-
(1972)
J Pediatr
, vol.81
, pp. 1134-1139
-
-
Schneider, E.L.1
Ellis, W.G.2
Brady, R.O.3
McCulloch, J.R.4
Epstein, C.J.5
-
112
-
-
50549198437
-
Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 18:221-225, 1965.
-
(1965)
Biochem Biophys Res Commun
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
113
-
-
0343154514
-
Enzymatic hydrolysis of sphingolipids. I. Hydrolysis and synthesis of ceramides by an enzyme from rat brain
-
Gatt S. Enzymatic hydrolysis of sphingolipids. I. Hydrolysis and synthesis of ceramides by an enzyme from rat brain. J Biol Chem 24:2724, 1966.
-
(1966)
J Biol Chem
, vol.24
, pp. 2724
-
-
Gatt, S.1
-
114
-
-
0022342534
-
Characterization of beta-glucosidase as a peripheral enzyme of lysosomal membranes from mouse liver and purification
-
Tokyo
-
Imai K. Characterization of beta-glucosidase as a peripheral enzyme of lysosomal membranes from mouse liver and purification. J Biochem (Tokyo) 98:1405-1416, 1985.
-
(1985)
J Biochem
, vol.98
, pp. 1405-1416
-
-
Imai, K.1
-
115
-
-
0020210136
-
Purification of glucosylceramidase by affinity chromatography
-
Strasberg PM, Lowden JA, Mahuran D. Purification of glucosylceramidase by affinity chromatography. Can J Biochem 60:1025-1031, 1982.
-
(1982)
Can J Biochem
, vol.60
, pp. 1025-1031
-
-
Strasberg, P.M.1
Lowden, J.A.2
Mahuran, D.3
-
116
-
-
0343646886
-
Human acid beta-glucosidase: Isolation and amino acid sequence of a peptide containing the catalytic site
-
Dinur T, Osiecki KM, Legler G, Gatt S, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci USA 83:1660-1664, 1986.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 1660-1664
-
-
Dinur, T.1
Osiecki, K.M.2
Legler, G.3
Gatt, S.4
Desnick, R.J.5
Grabowski, G.A.6
-
117
-
-
0021763985
-
Human lysosomal beta-glucosidase: Purification by affinity chromatography
-
Grabowski GA, Dagan A. Human lysosomal beta-glucosidase: purification by affinity chromatography. Anal Biochem 141:267-279, 1984.
-
(1984)
Anal Biochem
, vol.141
, pp. 267-279
-
-
Grabowski, G.A.1
Dagan, A.2
-
118
-
-
0022437241
-
Human acid beta-glucosidase: Affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose
-
Osiecki-Newman KM, Fabbro D, Dinur T, Boas S, Gatt S, Legier G, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose. Enzyme 35:147-153, 1986.
-
(1986)
Enzyme
, vol.35
, pp. 147-153
-
-
Osiecki-Newman, K.M.1
Fabbro, D.2
Dinur, T.3
Boas, S.4
Gatt, S.5
Legier, G.6
Desnick, R.J.7
Grabowski, G.A.8
-
119
-
-
0022975258
-
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes
-
Grabowski GA, Osiecki-Newman K, Dinur T, Fabbro D, Legier G, Gatt S, Desnick RJ. Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. J Biol Chem 261:8263-8269, 1986.
-
(1986)
J Biol Chem
, vol.261
, pp. 8263-8269
-
-
Grabowski, G.A.1
Osiecki-Newman, K.2
Dinur, T.3
Fabbro, D.4
Legier, G.5
Gatt, S.6
Desnick, R.J.7
-
120
-
-
0022650774
-
Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase
-
Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, Ginns EI. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem 261:50-53, 1986.
-
(1986)
J Biol Chem
, vol.261
, pp. 50-53
-
-
Tsuji, S.1
Choudary, P.V.2
Martin, B.M.3
Winfield, S.4
Barranger, J.A.5
Ginns, E.I.6
-
121
-
-
0022345601
-
Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene
-
Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene. Proc Natl Acad Sci USA 82:7289-7293, 1985.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 7289-7293
-
-
Sorge, J.1
West, C.2
Westwood, B.3
Beutler, E.4
-
122
-
-
0023714905
-
Gaucher disease type 1: Cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient
-
Graves PN, Grabowski GA, Eisner R, Palese P, Smith FI. Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. DNA 7:521-528, 1988.
-
(1988)
DNA
, vol.7
, pp. 521-528
-
-
Graves, P.N.1
Grabowski, G.A.2
Eisner, R.3
Palese, P.4
Smith, F.I.5
-
123
-
-
0023148279
-
Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA
-
Reiner O, Wilder S, Givol D, Horowitz M. Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. DNA 6:101-108, 1987.
-
(1987)
DNA
, vol.6
, pp. 101-108
-
-
Reiner, O.1
Wilder, S.2
Givol, D.3
Horowitz, M.4
-
124
-
-
0022425599
-
Functional lysosomal hydrolase size as determined by radiation inactivation analysis
-
Dawson G, Ellory JC. Functional lysosomal hydrolase size as determined by radiation inactivation analysis. Biochem J 226:283-288, 1985.
-
(1985)
Biochem J
, vol.226
, pp. 283-288
-
-
Dawson, G.1
Ellory, J.C.2
-
125
-
-
0021247964
-
Modifications of the molecular weight of membrane-bound nonspecific beta-glucosidase in type 1 Gaucher disease determined in situ by the radiation inactivation method
-
Maret A, Potier M, Salvayre R, Douste-Blazy L. Modifications of the molecular weight of membrane-bound nonspecific beta-glucosidase in type 1 Gaucher disease determined in situ by the radiation inactivation method. Biochim Biophys Acta 799:91-94, 1984.
-
(1984)
Biochim Biophys Acta
, vol.799
, pp. 91-94
-
-
Maret, A.1
Potier, M.2
Salvayre, R.3
Douste-Blazy, L.4
-
126
-
-
0020573184
-
Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease
-
Maret A, Potier M, Salvayre R, Douste-Blazy L. Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease. FEBS Lett 160:93-97, 1983.
-
(1983)
FEBS Lett
, vol.160
, pp. 93-97
-
-
Maret, A.1
Potier, M.2
Salvayre, R.3
Douste-Blazy, L.4
-
127
-
-
0024400710
-
Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences
-
O'Neill RR, Tokoro T, Kozak CA, Brady RO. Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci USA 86:5049-5053, 1989.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 5049-5053
-
-
O'Neill, R.R.1
Tokoro, T.2
Kozak, C.A.3
Brady, R.O.4
-
128
-
-
0025284194
-
Human acid beta-glucosidase: Glycosylation is required for catalytic activity
-
Grace ME, Grabowski GA. Human acid beta-glucosidase: glycosylation is required for catalytic activity. Biochem Biophys Res Commun 168:771-777, 1990.
-
(1990)
Biochem Biophys Res Commun
, vol.168
, pp. 771-777
-
-
Grace, M.E.1
Grabowski, G.A.2
-
129
-
-
0027179238
-
Human beta-glucosidase: N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity
-
Berg-Fussman A, Grace ME, Ioannou Y, Grabowski GA. Human beta-glucosidase: N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity. J Biol Chem 268:14861-14866, 1993.
-
(1993)
J Biol Chem
, vol.268
, pp. 14861-14866
-
-
Berg-Fussman, A.1
Grace, M.E.2
Ioannou, Y.3
Grabowski, G.A.4
-
130
-
-
0021164336
-
Structure of the N-asparagine-linked oligosaccharide units of human placental ß-glucocerebrosidase
-
Takasaki S, Murray GJ, Furbish FS, Brady RO, Barranger JA, Kobata A. Structure of the N-asparagine-linked oligosaccharide units of human placental ß-glucocerebrosidase. J Biol Chem 259:10112-10117, 1984.
-
(1984)
J Biol Chem
, vol.259
, pp. 10112-10117
-
-
Takasaki, S.1
Murray, G.J.2
Furbish, F.S.3
Brady, R.O.4
Barranger, J.A.5
Kobata, A.6
-
131
-
-
0022441830
-
Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease
-
Beutler E, Kuhl W. Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease. Proc Natl Acad Sci USA 83:7472-7474, 1986.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 7472-7474
-
-
Beutler, E.1
Kuhl, W.2
-
132
-
-
0022386744
-
Biosynthesis of the lysosomal enzyme glucocerebrosidase
-
Erickson AH, Ginns EI, Barranger JA. Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem 260:14319-14324, 1985.
-
(1985)
J Biol Chem
, vol.260
, pp. 14319-14324
-
-
Erickson, A.H.1
Ginns, E.I.2
Barranger, J.A.3
-
133
-
-
0024542617
-
Posttranslational processing of human lysosomal acid beta-glucosidase: A continuum of defects in Gaucher disease type 1 and type 2 fibroblasts
-
Bergmann JE, Grabowski GA. Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. Am J Hum Genet 44:741-750, 1989.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 741-750
-
-
Bergmann, J.E.1
Grabowski, G.A.2
-
134
-
-
0020358380
-
Mutations of glucocerebrosidase: Discrimination of neurologic and non-neurologic phenotypes of Gaucher disease
-
Ginns EI, Brady RO, Pirruccello S, Moore C, Sorrell S, Furbish FS, Murray GJ, Tager J, Barranger JA. Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci USA 79:5607-5610, 1982.
-
(1982)
Proc Natl Acad Sci USA
, vol.79
, pp. 5607-5610
-
-
Ginns, E.I.1
Brady, R.O.2
Pirruccello, S.3
Moore, C.4
Sorrell, S.5
Furbish, F.S.6
Murray, G.J.7
Tager, J.8
Barranger, J.A.9
-
135
-
-
0023158587
-
Gaucher disease: Genetic heterogeneity within and among the subtypes detected by immunoblotting
-
Fabbro D, Desnick RJ, Grabowski GA. Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet 40:15-31, 1987.
-
(1987)
Am J Hum Genet
, vol.40
, pp. 15-31
-
-
Fabbro, D.1
Desnick, R.J.2
Grabowski, G.A.3
-
136
-
-
0011596655
-
Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts
-
Kaplan A, Achord DT, Sly WS. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc Natl Acad Sci USA 74:2026-2030, 1977.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 2026-2030
-
-
Kaplan, A.1
Achord, D.T.2
Sly, W.S.3
-
137
-
-
0019863331
-
Lysosomal enzyme targeting: N-acetyl-glucosaminyl-phosphotransferase selectively phosphorylated native lysosomal enzymes
-
Varki A, Kornfeld A. Lysosomal enzyme targeting: N-acetyl-glucosaminyl-phosphotransferase selectively phosphorylated native lysosomal enzymes. J Biol Chem 256:11977-11980, 1981.
-
(1981)
J Biol Chem
, vol.256
, pp. 11977-11980
-
-
Varki, A.1
Kornfeld, A.2
-
138
-
-
0023846094
-
Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation
-
Aerts JM, Schram AW, Strijland A, Van Weely S, Jonsson LM, Tager JM, Sorrell SH, Ginns EI, Barranger JA, Murray GJ. Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation. Biochim Biophys Acta 964:303-308, 1988.
-
(1988)
Biochim Biophys Acta
, vol.964
, pp. 303-308
-
-
Aerts, J.M.1
Schram, A.W.2
Strijland, A.3
Van Weely, S.4
Jonsson, L.M.5
Tager, J.M.6
Sorrell, S.H.7
Ginns, E.I.8
Barranger, J.A.9
Murray, G.J.10
-
139
-
-
0018903866
-
Biosynthesis of lysosomal enzymes in fibroblasts
-
Hasilik A, Neufeld EF. Biosynthesis of lysosomal enzymes in fibroblasts. J Biol Chem 255:4937-4945, 1984.
-
(1984)
J Biol Chem
, vol.255
, pp. 4937-4945
-
-
Hasilik, A.1
Neufeld, E.F.2
-
140
-
-
0023099774
-
Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts
-
Jonsson LM, Murray GJ, Sorreli SH, Strijland A, Aerts JF, Ginns EI, Barranger JA, Tager JM, Schram AW. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem 164:171-179, 1987.
-
(1987)
Eur J Biochem
, vol.164
, pp. 171-179
-
-
Jonsson, L.M.1
Murray, G.J.2
Sorreli, S.H.3
Strijland, A.4
Aerts, J.F.5
Ginns, E.I.6
Barranger, J.A.7
Tager, J.M.8
Schram, A.W.9
-
141
-
-
0025828033
-
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts
-
Van Weely S, Van Leeuwen MB, Jansen ID, De Bruijn MA, Brouwer-Kelder EM, Schram AW, Sa Miranda MC, Barranger JA, Petersen EM, Goldblatt J. Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. Biochim Biophys Acta 1096:301-311, 1991.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 301-311
-
-
Van Weely, S.1
Van Leeuwen, M.B.2
Jansen, I.D.3
De Bruijn, M.A.4
Brouwer-Kelder, E.M.5
Schram, A.W.6
Sa Miranda, M.C.7
Barranger, J.A.8
Petersen, E.M.9
Goldblatt, J.10
-
142
-
-
0028157443
-
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace ME, Newman KM, Scheinker V, He G-S, Berg-Fussman A, Grabowski GA. Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 269:2283-2291, 1994.
-
(1994)
J Biol Chem
, vol.269
, pp. 2283-2291
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
He, G.-S.4
Berg-Fussman, A.5
Grabowski, G.A.6
-
143
-
-
0025992004
-
Gaucher disease: Heterologous expression of two alleles associated with neuronopathic phenotypes
-
Grace ME, Berg A, He GS, Goldberg L, Horowitz M, Grabowski GA. Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes. Am J Hum Genet 49:646-655, 1991.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 646-655
-
-
Grace, M.E.1
Berg, A.2
He, G.S.3
Goldberg, L.4
Horowitz, M.5
Grabowski, G.A.6
-
144
-
-
0023722691
-
An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen
-
Willemsen R, van Dongen JM, Aerts JM, Schram AW, Tager JM, Goudsmit R, Reuser AJ. An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen. Ultrastruct Pathol 12:471-478, 1988.
-
(1988)
Ultrastruct Pathol
, vol.12
, pp. 471-478
-
-
Willemsen, R.1
Van Dongen, J.M.2
Aerts, J.M.3
Schram, A.W.4
Tager, J.M.5
Goudsmit, R.6
Reuser, A.J.7
-
145
-
-
0342719940
-
Molecular forms, biosynthesis and maturation of glucocerebrosidase, a membrane associated lysosomal enzyme deficient in Gaucher disease
-
Freysz L, Dreyfus H, Massarelli R, Gatt S, eds. New York: Plenum
-
Tager JM, Aerts JM, Jonsson MV, Murray GJ, Van Weely S, Strijland A, Ginns El, Reuser JJ, Schram AW, Barranger JA. Molecular forms, biosynthesis and maturation of glucocerebrosidase, a membrane associated lysosomal enzyme deficient in Gaucher disease. In: Freysz L, Dreyfus H, Massarelli R, Gatt S, eds. Enzymes of Lipid Metabolism II. New York: Plenum, 1986; 735-745.
-
(1986)
Enzymes of Lipid Metabolism II
, pp. 735-745
-
-
Tager, J.M.1
Aerts, J.M.2
Jonsson, M.V.3
Murray, G.J.4
Van Weely, S.5
Strijland, A.6
Ginns, El.7
Reuser, J.J.8
Schram, A.W.9
Barranger, J.A.10
-
146
-
-
0005787427
-
Molecular biology and enzymology of human acid beta-glucosidase
-
Esen A, ed. Washington, DC: American Chemical Society
-
Grabowski GA, Berg-Fussman A, Grace ME. Molecular biology and enzymology of human acid beta-glucosidase. In: Esen A, ed. The Biochemistry and Molecular Biology of Beta-Glucosidases. Washington, DC: American Chemical Society, 1993; 66-82.
-
(1993)
The Biochemistry and Molecular Biology of Beta-glucosidases
, pp. 66-82
-
-
Grabowski, G.A.1
Berg-Fussman, A.2
Grace, M.E.3
-
147
-
-
0025246148
-
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations
-
Grace ME, Graves PN, Smith FI, Grabowski GA. Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations. J Biol Chem 265:6827-6835, 1990.
-
(1990)
J Biol Chem
, vol.265
, pp. 6827-6835
-
-
Grace, M.E.1
Graves, P.N.2
Smith, F.I.3
Grabowski, G.A.4
-
148
-
-
0025727902
-
Characterization of human glucocere-brosidase from different mutant alleles
-
Ohashi T, Hong CM, Weiler S, Tomich JM, Aerts JMFG, Tager JM, Barranger JA. Characterization of human glucocere-brosidase from different mutant alleles. J Biol Chem 266:3661-3669, 1991.
-
(1991)
J Biol Chem
, vol.266
, pp. 3661-3669
-
-
Ohashi, T.1
Hong, C.M.2
Weiler, S.3
Tomich, J.M.4
Aerts, J.M.F.G.5
Tager, J.M.6
Barranger, J.A.7
-
149
-
-
0017853238
-
Changes in fatty acid and sphingosine composition of the major gangliosides of human brain with age
-
Mansson JE, Vanier T, Svennerholm L. Changes in fatty acid and sphingosine composition of the major gangliosides of human brain with age. J Neurochem 30:273-275, 1978.
-
(1978)
J Neurochem
, vol.30
, pp. 273-275
-
-
Mansson, J.E.1
Vanier, T.2
Svennerholm, L.3
-
150
-
-
0343605255
-
L-Glucosylceramide: Synthesis, properties, and resistance to catabolism by glucocerebrosidase in vitro
-
Gal AE, Pentchev PG, Massey JM, Brady RO. L-Glucosylceramide: synthesis, properties, and resistance to catabolism by glucocerebrosidase in vitro. Proc Natl Acad Sci USA 76:3083-3086, 1979.
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 3083-3086
-
-
Gal, A.E.1
Pentchev, P.G.2
Massey, J.M.3
Brady, R.O.4
-
151
-
-
0022417349
-
Direct evidence by carbon-13 NMR spectroscopy for the erythro configuration of the sphingoid moiety in Gaucher cerebroside and other natural sphingolipids
-
Sarmientos F, Schwarzmann G, Sandhoff K. Direct evidence by carbon-13 NMR spectroscopy for the erythro configuration of the sphingoid moiety in Gaucher cerebroside and other natural sphingolipids. Eur J Biochem 146:59-64, 1985.
-
(1985)
Eur J Biochem
, vol.146
, pp. 59-64
-
-
Sarmientos, F.1
Schwarzmann, G.2
Sandhoff, K.3
-
152
-
-
0022894809
-
Specificity of human glucosylceramide beta-glucosidase towards synthetic glucosphingolipids inserted into liposomes. Kinetic studies in a detergent-free assay system
-
Sarmientos F, Schwarzmann G, Sandhoff K. Specificity of human glucosylceramide beta-glucosidase towards synthetic glucosphingolipids inserted into liposomes. Kinetic studies in a detergent-free assay system. Eur J Biochem 160:527 535, 1986.
-
(1986)
Eur J Biochem
, vol.160
, pp. 527535
-
-
Sarmientos, F.1
Schwarzmann, G.2
Sandhoff, K.3
-
153
-
-
0020604083
-
Effect of hydrogenation of glucosyl-and galactosylceramide on their enzymatic hydrolysis
-
Vaccaro AM, Muscillo M, Suzuki K. Effect of hydrogenation of glucosyl-and galactosylceramide on their enzymatic hydrolysis. Clin Chim Acta 131:1-13, 1983.
-
(1983)
Clin Chim Acta
, vol.131
, pp. 1-13
-
-
Vaccaro, A.M.1
Muscillo, M.2
Suzuki, K.3
-
154
-
-
0020062557
-
Comparison of synthetic and natural glucosylceramides as substrate for glucosylceramidase assay
-
Vaccaro AM, Kobayashi T, Suzuki K. Comparison of synthetic and natural glucosylceramides as substrate for glucosylceramidase assay. Clin Chim Acta 118:1-7, 1982.
-
(1982)
Clin Chim Acta
, vol.118
, pp. 1-7
-
-
Vaccaro, A.M.1
Kobayashi, T.2
Suzuki, K.3
-
155
-
-
0022455569
-
A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites
-
Prence EM, Garrett KO, Glew RH. A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites. Biochem J 237:655-662, 1986.
-
(1986)
Biochem J
, vol.237
, pp. 655-662
-
-
Prence, E.M.1
Garrett, K.O.2
Glew, R.H.3
-
156
-
-
0025375654
-
Human acid beta-glucosidase: Use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site
-
Greenberg P, Merrill AH, Liotta DC, Grabowski GA. Human acid beta-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site. Biochim Biophys Acta 1039:12-20, 1990.
-
(1990)
Biochim Biophys Acta
, vol.1039
, pp. 12-20
-
-
Greenberg, P.1
Merrill, A.H.2
Liotta, D.C.3
Grabowski, G.A.4
-
157
-
-
0025824346
-
Human acid beta-glucosidase: Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites
-
Fabbro D, Grabowski GA. Human acid beta-glucosidase: use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites. J Biol Chem 266:15021-15027, 1991.
-
(1991)
J Biol Chem
, vol.266
, pp. 15021-15027
-
-
Fabbro, D.1
Grabowski, G.A.2
-
158
-
-
0028179338
-
Identification of Glu340 as the active site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry
-
Miao S, McCarter J, Tull D, Grace ME, Grabowski GA, Withers SG, Aebersold R. Identification of Glu340 as the active site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry. J Biol Chem 269:10975-10978, 1994.
-
(1994)
J Biol Chem
, vol.269
, pp. 10975-10978
-
-
Miao, S.1
McCarter, J.2
Tull, D.3
Grace, M.E.4
Grabowski, G.A.5
Withers, S.G.6
Aebersold, R.7
-
159
-
-
0023716489
-
Human acid beta-glucosidase: Inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites
-
Osiecki-Newman K, Legler G, Grace M, Dinur T, Gatt S, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites. Enzyme 40:173-188, 1988.
-
(1988)
Enzyme
, vol.40
, pp. 173-188
-
-
Osiecki-Newman, K.1
Legler, G.2
Grace, M.3
Dinur, T.4
Gatt, S.5
Desnick, R.J.6
Grabowski, G.A.7
-
160
-
-
0022869230
-
M1-ganglioside and globotriaosylceramide
-
M1-ganglioside and globotriaosylceramide. Biochem J 240:921-924, 1986.
-
(1986)
Biochem J
, vol.240
, pp. 921-924
-
-
Wynn, C.H.1
-
161
-
-
0023095154
-
Binding of phospholipids to the phosphatidylinositol transfer protein from bovine brain as studied by steady-state and time-resolved fluorescence spectroscopy
-
Van Paridon PA, Visser AJ, Wirtz KW. Binding of phospholipids to the phosphatidylinositol transfer protein from bovine brain as studied by steady-state and time-resolved fluorescence spectroscopy. Biochim Biophys Acta 898:172-180, 1987.
-
(1987)
Biochim Biophys Acta
, vol.898
, pp. 172-180
-
-
Van Paridon, P.A.1
Visser, A.J.2
Wirtz, K.W.3
-
162
-
-
0019513677
-
Mechanism of activation of glucocerebrosidase by co-beta-glucosidase (glucosidase activator protein)
-
Berent SL, Radin NS. Mechanism of activation of glucocerebrosidase by co-beta-glucosidase (glucosidase activator protein). Biochim Biophys Acta 664:572-582, 1981.
-
(1981)
Biochim Biophys Acta
, vol.664
, pp. 572-582
-
-
Berent, S.L.1
Radin, N.S.2
-
163
-
-
0028366092
-
Human acid ß-glucosidase: Functional evaluation of human saposins expressed in E. coli
-
Qi X, Leonova T, Grabowski GA. Human acid ß-glucosidase: functional evaluation of human saposins expressed in E. coli. J Biol Chem 269:16746-16753, 1994.
-
(1994)
J Biol Chem
, vol.269
, pp. 16746-16753
-
-
Qi, X.1
Leonova, T.2
Grabowski, G.A.3
-
164
-
-
0029864731
-
Functional organization of saposin C: Definition of the neurotrophic and acid ß-glucosidase activation regions
-
Qi X, Qin W, Sun Y, Kondoh K, Grabowski GA. Functional organization of saposin C: definition of the neurotrophic and acid ß-glucosidase activation regions. J Biol Chem 271:6874-6880, 1996.
-
(1996)
J Biol Chem
, vol.271
, pp. 6874-6880
-
-
Qi, X.1
Qin, W.2
Sun, Y.3
Kondoh, K.4
Grabowski, G.A.5
-
165
-
-
0021682375
-
Characterization of the phospholipid requirement of a rat liver beta-glucosidase
-
Basu A, Glew RH. Characterization of the phospholipid requirement of a rat liver beta-glucosidase. Biochem J 224:515-524, 1984.
-
(1984)
Biochem J
, vol.224
, pp. 515-524
-
-
Basu, A.1
Glew, R.H.2
-
166
-
-
0020453271
-
Enzymic differen-tiation of neurologic and nonneurologic forms of Gaucher's disease
-
Glew RH, Daniels LB, Clark LS, Hoyer SW. Enzymic differen-tiation of neurologic and nonneurologic forms of Gaucher's disease. J Neuropathol Exp Neurol 41:630-641, 1982.
-
(1982)
J Neuropathol Exp Neurol
, vol.41
, pp. 630-641
-
-
Glew, R.H.1
Daniels, L.B.2
Clark, L.S.3
Hoyer, S.W.4
-
167
-
-
0022369242
-
Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease
-
Basu A, Prence E, Garrett K, Glew RH, Ellingson JS. Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease. Arch Biochem Biophys 243:28-34, 1985.
-
(1985)
Arch Biochem Biophys
, vol.243
, pp. 28-34
-
-
Basu, A.1
Prence, E.2
Garrett, K.3
Glew, R.H.4
Ellingson, J.S.5
-
168
-
-
0020008925
-
Homozygote and heterozygote identification
-
Wenger DA, Roth S. Homozygote and heterozygote identification. Prog Clin Biol Res 95:551-572, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 551-572
-
-
Wenger, D.A.1
Roth, S.2
-
169
-
-
0021837344
-
Gaucher disease types 1, 2, and 3: Differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine
-
Grabowski GA, Dinur T, Osiecki KM, Kruse JR, Legier G, Gatt S. Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. Am J Hum Genet 37:499-510, 1985.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 499-510
-
-
Grabowski, G.A.1
Dinur, T.2
Osiecki, K.M.3
Kruse, J.R.4
Legier, G.5
Gatt, S.6
-
171
-
-
0023131172
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
-
Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. New Engl J Med 316:570-575, 1987.
-
(1987)
New Engl J Med
, vol.316
, pp. 570-575
-
-
Tsuji, S.1
Choudary, P.V.2
Martin, B.M.3
Stubblefield, B.K.4
Mayor, J.A.5
Barranger, J.A.6
Ginns, E.I.7
-
172
-
-
0027474810
-
Identification of six new Gaucher disease mutations
-
Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics 15:203-205, 1993.
-
(1993)
Genomics
, vol.15
, pp. 203-205
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
-
173
-
-
0028348926
-
RecTL: A complex allele of the gluco-cerebrosidase gene associated with a mild clinical course of Gaucher disease
-
Zimran A, Horowitz M. RecTL: a complex allele of the gluco-cerebrosidase gene associated with a mild clinical course of Gaucher disease. Am J Med Genet 50:74-78, 1994.
-
(1994)
Am J Med Genet
, vol.50
, pp. 74-78
-
-
Zimran, A.1
Horowitz, M.2
-
174
-
-
0015154711
-
Gaucher's disease: Deficiency of 'acid' beta-glucosidase and reconstitution of enzyme activity in vitro
-
Ho MW, O'Brien JS. Gaucher's disease: deficiency of 'acid' beta-glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci USA 68:2810-2813, 1971.
-
(1971)
Proc Natl Acad Sci USA
, vol.68
, pp. 2810-2813
-
-
Ho, M.W.1
O'Brien, J.S.2
-
175
-
-
0024435444
-
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder
-
Christomanou H, Chabas A, Pampols T, Guardiola A. Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. Klin Wochenschr 67:999-1003, 1989.
-
(1989)
Klin Wochenschr
, vol.67
, pp. 999-1003
-
-
Christomanou, H.1
Chabas, A.2
Pampols, T.3
Guardiola, A.4
-
176
-
-
0022782844
-
Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant
-
Christomanou H, Aignesberger A, Linke RP. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe Seyler 367:879-890, 1986.
-
(1986)
Biol Chem Hoppe Seyler
, vol.367
, pp. 879-890
-
-
Christomanou, H.1
Aignesberger, A.2
Linke, R.P.3
-
177
-
-
0025762364
-
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease
-
Schnabel D, Schröder M, Sandhoff K. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett 284:57-59, 1991.
-
(1991)
FEBS Lett
, vol.284
, pp. 57-59
-
-
Schnabel, D.1
Schröder, M.2
Sandhoff, K.3
-
178
-
-
0027192992
-
Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency
-
Rafi MA, de Gala G, Zhang XL, Wenger DA. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. Somatic Cell Mol Genet 19:1-7, 1993.
-
(1993)
Somatic Cell Mol Genet
, vol.19
, pp. 1-7
-
-
Rafi, M.A.1
De Gala, G.2
Zhang, X.L.3
Wenger, D.A.4
-
179
-
-
0019870169
-
Beta-glucosidase activator protein from bovine spleen ('coglucosidase')
-
Berent SL, Radin NS. Beta-glucosidase activator protein from bovine spleen ('coglucosidase'). Arch Biochem Biophys 208:248-260, 1981.
-
(1981)
Arch Biochem Biophys
, vol.208
, pp. 248-260
-
-
Berent, S.L.1
Radin, N.S.2
-
180
-
-
0021344740
-
Human lysosomal beta-glucosidase: Kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites
-
Grabowski GA, Gatt S, Kruse J, Desnick RJ. Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites. Arch Biochem Biophys 231:144-157, 1984.
-
(1984)
Arch Biochem Biophys
, vol.231
, pp. 144-157
-
-
Grabowski, G.A.1
Gatt, S.2
Kruse, J.3
Desnick, R.J.4
-
181
-
-
0021983644
-
Further studies on the activation of glucocerebrosidase by a heat-stable factor from Gaucher spleen
-
Prence E, Chakravorti S, Basu A, Clark LS, Glew RH, Chambers JA. Further studies on the activation of glucocerebrosidase by a heat-stable factor from Gaucher spleen. Arch Biochem Biophys 236:98-109, 1985.
-
(1985)
Arch Biochem Biophys
, vol.236
, pp. 98-109
-
-
Prence, E.1
Chakravorti, S.2
Basu, A.3
Clark, L.S.4
Glew, R.H.5
Chambers, J.A.6
-
182
-
-
0028948823
-
Structural analysis of saposin C and B: Complete localization of disulfide bridges
-
Vaccaro AM, Salvioli R, Barca A, Tatti M, Ciaffoni F, Maras B, Siciliano R, Zappacosta F, Amoresano A, Pucci P. Structural analysis of saposin C and B: complete localization of disulfide bridges. J Biol Chem 270:9953-9960, 1995.
-
(1995)
J Biol Chem
, vol.270
, pp. 9953-9960
-
-
Vaccaro, A.M.1
Salvioli, R.2
Barca, A.3
Tatti, M.4
Ciaffoni, F.5
Maras, B.6
Siciliano, R.7
Zappacosta, F.8
Amoresano, A.9
Pucci, P.10
-
183
-
-
0025127278
-
Interaction of saposins, acidic lipids, and glucosylceramidase
-
Morimoto S, Kishimoto Y, Tomich J, Weiler S, Ohashi T, Kretz KA, O'Brien JS. Interaction of saposins, acidic lipids, and glucosylceramidase J Biol Chem 265:1933-1937, 1990.
-
(1990)
J Biol Chem
, vol.265
, pp. 1933-1937
-
-
Morimoto, S.1
Kishimoto, Y.2
Tomich, J.3
Weiler, S.4
Ohashi, T.5
Kretz, K.A.6
O'Brien, J.S.7
-
184
-
-
0021923141
-
The gene coding for a sphingolipid activator protein, SAP-2 is on chromosome 10
-
Inui K, Kao R-T, Fujibayashi S, Jones C, Morse HG, Law ML, Wenger DA. The gene coding for a sphingolipid activator protein, SAP-2 is on chromosome 10. Hum Genet 69:197-200, 1985.
-
(1985)
Hum Genet
, vol.69
, pp. 197-200
-
-
Inui, K.1
Kao, R.-T.2
Fujibayashi, S.3
Jones, C.4
Morse, H.G.5
Law, M.L.6
Wenger, D.A.7
-
185
-
-
0022235296
-
Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10
-
Fujibayashi S, Kao R-T. Jones C, Morse H, Law M, Wenger DA. Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10. Am J Hum Genet 37:741-748, 1985.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 741-748
-
-
Fujibayashi, S.1
Kao, R.-T.2
Jones, C.3
Morse, H.4
Law, M.5
Wenger, D.A.6
-
186
-
-
0024745054
-
Molecular cloning of a human co-ß-glucosidase cDNA: Evidence the four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats
-
Gavrieli-Rorman E, Grabowski GA. Molecular cloning of a human co-ß-glucosidase cDNA: evidence the four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats. Genomics 5:486-492, 1989.
-
(1989)
Genomics
, vol.5
, pp. 486-492
-
-
Gavrieli-Rorman, E.1
Grabowski, G.A.2
-
187
-
-
0024297787
-
Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus
-
O'Brien JS, Kretz, KA, Dewji N, Wenger DA, Esch F, Fluharty AL. Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 241:1098-1101, 1988.
-
(1988)
Science
, vol.241
, pp. 1098-1101
-
-
O'Brien, J.S.1
Kretz, K.A.2
Dewji, N.3
Wenger, D.A.4
Esch, F.5
Fluharty, A.L.6
-
188
-
-
0024593996
-
Structure of full-length cDNA coding of sulfatide activator, a co-ß-glucosidase and two other homologous proteins: Two alternate forms of the sulfatide activator
-
Nakano T, Sandhoff K, Stumper J, Christomanou H, Suzuki K. Structure of full-length cDNA coding of sulfatide activator, a co-ß-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator. J Biochem 105:152-154, 1989.
-
(1989)
J Biochem
, vol.105
, pp. 152-154
-
-
Nakano, T.1
Sandhoff, K.2
Stumper, J.3
Christomanou, H.4
Suzuki, K.5
-
189
-
-
0024803635
-
Human sphingolipid activator protein-1 and sphingolipid activator protein-2 are encoded by the same gene
-
Reiner O, Dagan O, Horowitz M. Human sphingolipid activator protein-1 and sphingolipid activator protein-2 are encoded by the same gene. J Mol Neurosci 1:225-235, 1989.
-
(1989)
J Mol Neurosci
, vol.1
, pp. 225-235
-
-
Reiner, O.1
Dagan, O.2
Horowitz, M.3
-
190
-
-
0023892632
-
Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: Sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator
-
Collard MW, Sylvester SR, Tsuruta JK, Griswold MD. Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator. Biochemistry 27:4557-4564, 1988.
-
(1988)
Biochemistry
, vol.27
, pp. 4557-4564
-
-
Collard, M.W.1
Sylvester, S.R.2
Tsuruta, J.K.3
Griswold, M.D.4
-
191
-
-
0028020352
-
Developmental and tissue specific expression of prosaposin mRNA in murine tissues
-
Sun Y, Witte DP, Grabowski GA. Developmental and tissue specific expression of prosaposin mRNA in murine tissues. Am J Pathol 145:1390-1398, 1994.
-
(1994)
Am J Pathol
, vol.145
, pp. 1390-1398
-
-
Sun, Y.1
Witte, D.P.2
Grabowski, G.A.3
-
192
-
-
0024206984
-
Complete amino-acid sequence of the naturally occurring A2 activator protein for enzymic sphingomyelin degradation: Identity to the sulfatide activator protein (SAP-1)
-
Kleinschmidt T, Christomanou H, Braumtzer G. Complete amino-acid sequence of the naturally occurring A2 activator protein for enzymic sphingomyelin degradation: identity to the sulfatide activator protein (SAP-1). Biol Chem Hoppe Seyler 369:1361-1365, 1988.
-
(1988)
Biol Chem Hoppe Seyler
, vol.369
, pp. 1361-1365
-
-
Kleinschmidt, T.1
Christomanou, H.2
Braumtzer, G.3
-
193
-
-
0023507932
-
Nucleotide sequence of cloned cDNA from human sphingolipid activator protein 1 precursor
-
Dewji NN, Wenger DA, O'Brien JS. Nucleotide sequence of cloned cDNA from human sphingolipid activator protein 1 precursor. Proc Natl Acad Sci USA 84:8652-8656, 1987.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 8652-8656
-
-
Dewji, N.N.1
Wenger, D.A.2
O'Brien, J.S.3
-
194
-
-
0024286315
-
Saposin D: A sphingomyelinase activator
-
Morimoto S, Martin BM, Kishimoto Y, O'Brien JS. Saposin D: a sphingomyelinase activator. Biochem Biophys Res Commun 156:403-410, 1988.
-
(1988)
Biochem Biophys Res Commun
, vol.156
, pp. 403-410
-
-
Morimoto, S.1
Martin, B.M.2
Kishimoto, Y.3
O'Brien, J.S.4
-
195
-
-
0024208074
-
The activator protein for glycosylceramide ß-glucosidase from guinea pig liver: Improved isolation method and complete amino acid sequence
-
Sano A, Radin NS, Johnson LI, Tarr GE. The activator protein for glycosylceramide ß-glucosidase from guinea pig liver: improved isolation method and complete amino acid sequence. J Biol Chem 263:19597-19601, 1988.
-
(1988)
J Biol Chem
, vol.263
, pp. 19597-19601
-
-
Sano, A.1
Radin, N.S.2
Johnson, L.I.3
Tarr, G.E.4
-
196
-
-
0026080508
-
The organization of the gene for the human cere-broside sulfate activator protein
-
Holtschmidt H, Sandhoff K, Furst W, Kwon H-Y, Schnabel D, Suzuki K. The organization of the gene for the human cere-broside sulfate activator protein. FEBS Lett 280:267-270, 1991.
-
(1991)
FEBS Lett
, vol.280
, pp. 267-270
-
-
Holtschmidt, H.1
Sandhoff, K.2
Furst, W.3
Kwon, H.-Y.4
Schnabel, D.5
Suzuki, K.6
-
197
-
-
0026753974
-
Structure and evolution of the human prosaposin chromosomal gene
-
Rorman EG, Scheinker V, Grabowski GA. Structure and evolution of the human prosaposin chromosomal gene. Genomics 13:312-318, 1992.
-
(1992)
Genomics
, vol.13
, pp. 312-318
-
-
Rorman, E.G.1
Scheinker, V.2
Grabowski, G.A.3
-
198
-
-
0025321793
-
Characterization of a mutation in a family with saposin B deficiency: A glycosylation site defect
-
Kretz KA, Carson S, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. Proc Natl Acad Sci USA 87:2541-2544, 1990.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 2541-2544
-
-
Kretz, K.A.1
Carson, S.2
Morimoto, S.3
Kishimoto, Y.4
Fluharty, A.L.5
O'Brien, J.S.6
-
199
-
-
0025017535
-
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form metachromatic leukodystrophy
-
Rafi MA, Zhang X-L, DeGala G, Wenger DA. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form metachromatic leukodystrophy. Biochem Biophys Res Commun 166:1017-1023, 1990.
-
(1990)
Biochem Biophys Res Commun
, vol.166
, pp. 1017-1023
-
-
Rafi, M.A.1
Zhang, X.-L.2
DeGala, G.3
Wenger, D.A.4
-
200
-
-
0025908730
-
The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1) deficient metachromatic leukodystrophy
-
Zhang X-L, Rafi MA, DeGala G, Wenger DA. The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1) deficient metachromatic leukodystrophy. Hum Genet 87:211-215, 1991.
-
(1991)
Hum Genet
, vol.87
, pp. 211-215
-
-
Zhang, X.-L.1
Rafi, M.A.2
DeGala, G.3
Wenger, D.A.4
-
201
-
-
0025056561
-
Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator-1 deficiency
-
Zhang X-L, Rafi MA, DeGala G, Wenger DA. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator-1 deficiency. Proc Natl Acad Sci USA 87:1426-1430, 1990.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1426-1430
-
-
Zhang, X.-L.1
Rafi, M.A.2
DeGala, G.3
Wenger, D.A.4
-
202
-
-
0026705846
-
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene
-
Schnabel D, Schreoder M, Furst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, Suzuki K, Sandhoff K. Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J Biol Chem 267:3312-3315, 1992.
-
(1992)
J Biol Chem
, vol.267
, pp. 3312-3315
-
-
Schnabel, D.1
Schreoder, M.2
Furst, W.3
Klein, A.4
Hurwitz, R.5
Zenk, T.6
Weber, J.7
Harzer, K.8
Paton, B.C.9
Poulos, A.10
Suzuki, K.11
Sandhoff, K.12
-
203
-
-
0013650617
-
Murine prosaposin: Expression in the reproductive system of a gene implicated in human genetic disease
-
Sprecher-Levy H, Orr-Urtreger A, Lonai P, Horowitz M. Murine prosaposin: expression in the reproductive system of a gene implicated in human genetic disease. Cell Mol Biol 39:287-299, 1993.
-
(1993)
Cell Mol Biol
, vol.39
, pp. 287-299
-
-
Sprecher-Levy, H.1
Orr-Urtreger, A.2
Lonai, P.3
Horowitz, M.4
-
204
-
-
0023030611
-
Synthesis and processing of sphingolipid activator protein-2 in cultured human fibroblasts
-
Fujibayashi S, Wenger DA. Synthesis and processing of sphingolipid activator protein-2 in cultured human fibroblasts. J Biol Chem 261:15339-15343, 1986.
-
(1986)
J Biol Chem
, vol.261
, pp. 15339-15343
-
-
Fujibayashi, S.1
Wenger, D.A.2
-
205
-
-
0022908217
-
M1, activator protein in control and mutant cultured skin fibroblasts
-
M1, activator protein in control and mutant cultured skin fibroblasts. Biochim Biophys Acta 875:554-562, 1986.
-
(1986)
Biochim Biophys Acta
, vol.875
, pp. 554-562
-
-
Fujibayashi, S.1
Wenger, D.A.2
-
206
-
-
0029013931
-
Identification of the neurotrophic factor sequence of prosaposin
-
O'Brien JS, Carson GS, Seo H-C, Hiraiwa M, Weiler S, Tomich JM, Barranger JA, Kahn M, Azuma N, Kishimoto Y. Identification of the neurotrophic factor sequence of prosaposin. FASEB J 9:681-685, 1995.
-
(1995)
FASEB J
, vol.9
, pp. 681-685
-
-
O'Brien, J.S.1
Carson, G.S.2
Seo, H.-C.3
Hiraiwa, M.4
Weiler, S.5
Tomich, J.M.6
Barranger, J.A.7
Kahn, M.8
Azuma, N.9
Kishimoto, Y.10
-
207
-
-
0025294786
-
Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases
-
Morimoto S, Yamamoto Y, O'Brien JS, Kishimoto Y. Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. Proc Natl Acad Sci USA 87:3493-3497, 1990.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 3493-3497
-
-
Morimoto, S.1
Yamamoto, Y.2
O'Brien, J.S.3
Kishimoto, Y.4
-
208
-
-
0026478719
-
Binding and transport of gangliosides by prosaposin
-
Hiraiwa M, Soeda S, Kishimoto Y, O'Brien JS. Binding and transport of gangliosides by prosaposin. Proc Natl Acad Sci USA 89:11254-11258, 1992.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11254-11258
-
-
Hiraiwa, M.1
Soeda, S.2
Kishimoto, Y.3
O'Brien, J.S.4
-
209
-
-
0027467490
-
Ganglioside metabolism: Enzymology, topology and regulation
-
van Echten G, Sandhoff K. Ganglioside metabolism: enzymology, topology and regulation. J Biol Chem 268:5341-5344, 1993.
-
(1993)
J Biol Chem
, vol.268
, pp. 5341-5344
-
-
Van Echten, G.1
Sandhoff, K.2
-
210
-
-
0026768211
-
Saposins: Structure, function, distribution and molecular genetics
-
Kishimoto Y, Hiraiwa M, O'Brien JS. Saposins: structure, function, distribution and molecular genetics. J Lipid Res 33:1255-1267, 1992.
-
(1992)
J Lipid Res
, vol.33
, pp. 1255-1267
-
-
Kishimoto, Y.1
Hiraiwa, M.2
O'Brien, J.S.3
-
211
-
-
0026747197
-
Activator proteins and topology of lysosomal sphingolipid catabolism
-
Furst W, Sandhoff K. Activator proteins and topology of lysosomal sphingolipid catabolism. Biochim Biophys Acta 1126:1-16, 1992.
-
(1992)
Biochim Biophys Acta
, vol.1126
, pp. 1-16
-
-
Furst, W.1
Sandhoff, K.2
-
212
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4:87-96, 1989.
-
(1989)
Genomics
, vol.4
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
Reiner, O.4
Gelbart, T.5
Beutler, E.6
-
213
-
-
0008956858
-
Targeted disruption of a novel gene contiguous to both glucocerebrosidase (GC) and thrombospondin (TSP3) results in an embryonic lethal phenotype in the mouse
-
Bornstein P, LaMarca ME, McKinney CE, Winfield S, Shingu T, Vos HL, Ginns EI. Targeted disruption of a novel gene contiguous to both glucocerebrosidase (GC) and thrombospondin (TSP3) results in an embryonic lethal phenotype in the mouse. Am J Hum Genet 55:A129, 1994.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Bornstein, P.1
LaMarca, M.E.2
McKinney, C.E.3
Winfield, S.4
Shingu, T.5
Vos, H.L.6
Ginns, E.I.7
-
214
-
-
46149138429
-
Promoters for housekeeping genes
-
Dynan WS. Promoters for housekeeping genes. Trends Genet 2:196-197, 1986.
-
(1986)
Trends Genet
, vol.2
, pp. 196-197
-
-
Dynan, W.S.1
-
215
-
-
0025053993
-
High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease
-
Sorge J, Gross E, West C, Beutler E. High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. J Clin Invest 86:1137-1141, 1990.
-
(1990)
J Clin Invest
, vol.86
, pp. 1137-1141
-
-
Sorge, J.1
Gross, E.2
West, C.3
Beutler, E.4
-
216
-
-
0343590012
-
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells
-
Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Gene 36:365-368, 1994.
-
(1994)
Gene
, vol.36
, pp. 365-368
-
-
Imai, K.1
Nakamura, M.2
Yamada, M.3
Asano, A.4
Yokoyama, S.5
Tsuji, S.6
Ginns, E.I.7
-
217
-
-
0026552015
-
Polymorphisms in the human glucocerebrosidase gene
-
Beutler E, West C, Gelbart T. Polymorphisms in the human glucocerebrosidase gene. Genomics 12:795-800, 1992.
-
(1992)
Genomics
, vol.12
, pp. 795-800
-
-
Beutler, E.1
West, C.2
Gelbart, T.3
-
218
-
-
0027157704
-
Regulation of expression of the gene encoding human acid ß-glucosidase in different cell types
-
Doll RF, Smith FI. Regulation of expression of the gene encoding human acid ß-glucosidase in different cell types. Gene 127:255-260, 1993.
-
(1993)
Gene
, vol.127
, pp. 255-260
-
-
Doll, R.F.1
Smith, F.I.2
-
219
-
-
0028846578
-
Gene therapy in Gaucher disease: Effect of cellular type on expression of active acid ß-glucosidase
-
Xu Y-H, Striegel P, Wenstrup RJ, Grabowski GA. Gene therapy in Gaucher disease: effect of cellular type on expression of active acid ß-glucosidase. Gene Ther 2:647-654, 1995.
-
(1995)
Gene Ther
, vol.2
, pp. 647-654
-
-
Xu, Y.-H.1
Striegel, P.2
Wenstrup, R.J.3
Grabowski, G.A.4
-
220
-
-
0343154441
-
Characterization of the normal human glucocerebrosidase genes and a mutated form in Gaucher's patient
-
Salvayre R, Douste-Blazy L, Gatt S, eds. NewYork: Plenum
-
Reiner O, Wigderson M, Horowitz M. Characterization of the normal human glucocerebrosidase genes and a mutated form in Gaucher's patient. In: Salvayre R, Douste-Blazy L, Gatt S, eds. Lipid Storage Disorders. Biological and Medical Aspects. NewYork: Plenum, 1988; 29-39.
-
(1988)
Lipid Storage Disorders. Biological and Medical Aspects
, pp. 29-39
-
-
Reiner, O.1
Wigderson, M.2
Horowitz, M.3
-
221
-
-
0023873592
-
Structural analysis of the human glucocerebrosidase gene
-
Reiner O, Wigderson M, Horowitz M. Structural analysis of the human glucocerebrosidase gene. DNA 7:107, 1988.
-
(1988)
DNA
, vol.7
, pp. 107
-
-
Reiner, O.1
Wigderson, M.2
Horowitz, M.3
-
222
-
-
0022894812
-
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts
-
Graves PN, Grabowski GA, Ludman MD, Palese P, Smith FI. Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. Am J Hum Genet 39:763-774, 1986.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 763-774
-
-
Graves, P.N.1
Grabowski, G.A.2
Ludman, M.D.3
Palese, P.4
Smith, F.I.5
-
223
-
-
0024637222
-
Characterization of mutations in Gaucher patients by cDNA cloning
-
Wigderson M, Firon N, Horowitz Z, Wilder S, Frishberg Y, Reiner O, Horowitz M. Characterization of mutations in Gaucher patients by cDNA cloning. Am J Hum Genet 44:365-377, 1989.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 365-377
-
-
Wigderson, M.1
Firon, N.2
Horowitz, Z.3
Wilder, S.4
Frishberg, Y.5
Reiner, O.6
Horowitz, M.7
-
224
-
-
0025819971
-
Human acid sphingomyelinase: Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs
-
Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ. Human acid sphingomyelinase: isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 266:8531-8539, 1991.
-
(1991)
J Biol Chem
, vol.266
, pp. 8531-8539
-
-
Schuchman, E.H.1
Suchi, M.2
Takahashi, T.3
Sandhoff, K.4
Desnick, R.J.5
-
225
-
-
0023123369
-
Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer
-
Sorge J, Kuhl W, West C, Beutler E. Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer. Proc Natl Acad Sci USA 84:906-909, 1987.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 906-909
-
-
Sorge, J.1
Kuhl, W.2
West, C.3
Beutler, E.4
-
226
-
-
0022732259
-
Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts
-
Choudary PV, Barranger JA, Tsuji S, Mayor J, LaMarca ME, Cepko CL, Mulligan RC, Ginns EI. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts. Mol Biol Med 3:293-299, 1986.
-
(1986)
Mol Biol Med
, vol.3
, pp. 293-299
-
-
Choudary, P.V.1
Barranger, J.A.2
Tsuji, S.3
Mayor, J.4
LaMarca, M.E.5
Cepko, C.L.6
Mulligan, R.C.7
Ginns, E.I.8
-
227
-
-
0023819773
-
Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector
-
Martin BM, Tsuji S, LaMarca ME, Maysak K, Eliason W, Ginns EI. Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA 7:99-106, 1988.
-
(1988)
DNA
, vol.7
, pp. 99-106
-
-
Martin, B.M.1
Tsuji, S.2
LaMarca, M.E.3
Maysak, K.4
Eliason, W.5
Ginns, E.I.6
-
228
-
-
0024320293
-
Prediction of severity of Gaucher's disease by identification of mutations at DNA level
-
Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2:349-352, 1989.
-
(1989)
Lancet
, vol.2
, pp. 349-352
-
-
Zimran, A.1
Sorge, J.2
Gross, E.3
Kubitz, M.4
West, C.5
Beutler, E.6
-
229
-
-
0024121474
-
Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals
-
published erratum appears in Proc Natl Acad Sci USA 1988 Aug;85(15):5708
-
Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals [published erratum appears in Proc Natl Acad Sci USA 1988 Aug;85(15):5708]. Proc Natl Acad. Sci USA 85:2349-2352, 1988.
-
(1988)
Proc Natl Acad. Sci USA
, vol.85
, pp. 2349-2352
-
-
Tsuji, S.1
Martin, B.M.2
Barranger, J.A.3
Stubblefield, B.K.4
LaMarca, M.E.5
Ginns, E.I.6
-
230
-
-
0025101234
-
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder
-
Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest 85:219-222, 1990.
-
(1990)
J Clin Invest
, vol.85
, pp. 219-222
-
-
Zimran, A.1
Sorge, J.2
Gross, E.3
Kubitz, M.4
West, C.5
Beutler, E.6
-
231
-
-
0025352948
-
Complex alleles of the acid beta-glucosidase gene in Gaucher disease
-
Latham T, Grabowski GA, Theophilus BD, Smith FI. Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet 47:79-86, 1990.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 79-86
-
-
Latham, T.1
Grabowski, G.A.2
Theophilus, B.D.3
Smith, F.I.4
-
232
-
-
0025315003
-
Sequence of two alleles responsible for Gaucher disease
-
Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA. Sequence of two alleles responsible for Gaucher disease. DNA Cell Biol 9:233-241, 1990.
-
(1990)
DNA Cell Biol
, vol.9
, pp. 233-241
-
-
Hong, C.M.1
Ohashi, T.2
Yu, X.J.3
Weiler, S.4
Barranger, J.A.5
-
233
-
-
0026701193
-
Gaucher disease: A G(+ 1) to A(+ 1) IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA
-
He G-S, Grabowski GA. Gaucher disease: A G(+ 1) to A(+ 1) IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. Am J Hum Genet 51:810-820, 1992.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 810-820
-
-
He, G.-S.1
Grabowski, G.A.2
-
234
-
-
0026594203
-
Mutations in Jewish patients with Gaucher disease
-
Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Mutations in Jewish patients with Gaucher disease. Blood 79:1662-1666, 1992.
-
(1992)
Blood
, vol.79
, pp. 1662-1666
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Zimran, A.4
West, C.5
-
235
-
-
0024998724
-
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene
-
Dahl N, Lagerström M, Erikson A, Pettersson U. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 47:275-278, 1990.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 275-278
-
-
Dahl, N.1
Lagerström, M.2
Erikson, A.3
Pettersson, U.4
-
236
-
-
0027442325
-
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
-
Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, Barton NW, Abrahamov A, Zimran A. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet 53:921-930, 1993.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 921-930
-
-
Horowitz, M.1
Tzuri, G.2
Eyal, N.3
Berebi, A.4
Kolodny, E.H.5
Brady, R.O.6
Barton, N.W.7
Abrahamov, A.8
Zimran, A.9
-
237
-
-
0028054985
-
Mutations causing Gaucher disease
-
Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 3:1-11, 1994.
-
(1994)
Hum Mutat
, vol.3
, pp. 1-11
-
-
Horowitz, M.1
Zimran, A.2
-
238
-
-
0021085107
-
Partial enzyme deficiencies: Residual activities and the development of neurological disorders
-
Conzelmann E, Sandhoff K. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 6:58-71, 1983.
-
(1983)
Dev Neurosci
, vol.6
, pp. 58-71
-
-
Conzelmann, E.1
Sandhoff, K.2
-
239
-
-
0026572112
-
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
-
Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88:513-523, 1992.
-
(1992)
Hum Genet
, vol.88
, pp. 513-523
-
-
Leinekugel, P.1
Michel, S.2
Conzelmann, E.3
Sandhoff, K.4
-
240
-
-
0020009878
-
Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations
-
Svennerholm L, Dreborg S, Erikson A, Groth CG, Hillborg PO, Häkansson G, Nilsson O, Tibblin E. Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations. Prog Clin Biol Res 95:67-94, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 67-94
-
-
Svennerholm, L.1
Dreborg, S.2
Erikson, A.3
Groth, C.G.4
Hillborg, P.O.5
Häkansson, G.6
Nilsson, O.7
Tibblin, E.8
-
241
-
-
0025044640
-
Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: High frequency of a Neil polymorphism in the non-neuronopathic form
-
Masuno M, Tomatsu S, Sukegawa K, Orii T. Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a Neil polymorphism in the non-neuronopathic form. Hum Genet 84:203-206, 1990.
-
(1990)
Hum Genet
, vol.84
, pp. 203-206
-
-
Masuno, M.1
Tomatsu, S.2
Sukegawa, K.3
Orii, T.4
-
242
-
-
0004416640
-
cDNA clone for the alpha-chain of human beta-hexosaminidase: Deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts
-
Meyerowitz R, Proia R. cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. Proc Natl Acad Sci USA 81:5394-5398, 1988.
-
(1988)
Proc Natl Acad Sci USA
, vol.81
, pp. 5394-5398
-
-
Meyerowitz, R.1
Proia, R.2
-
243
-
-
0021216523
-
Faulty association of alpha and beta subunits in some forms of beta-hexosaminidase A deficiency
-
d'Azzo A, Proia R, Kolodny EH, Kaback M, Neufeld EF. Faulty association of alpha and beta subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem 259:11070-11074, 1984.
-
(1984)
J Biol Chem
, vol.259
, pp. 11070-11074
-
-
D'Azzo, A.1
Proia, R.2
Kolodny, E.H.3
Kaback, M.4
Neufeld, E.F.5
-
244
-
-
0021244174
-
Bone-marrow transplantation in severe Gaucher's disease
-
Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. New Engl J Med 311:84-88, 1984.
-
(1984)
New Engl J Med
, vol.311
, pp. 84-88
-
-
Rappeport, J.M.1
Ginns, E.I.2
-
245
-
-
0023627965
-
Regression of the radiological changes of Gaucher's disease following bone marrow transplantation
-
Starer F, Sargent JD, Hobbs JR. Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. Br J Radiol 60:1189-1195, 1987.
-
(1987)
Br J Radiol
, vol.60
, pp. 1189-1195
-
-
Starer, F.1
Sargent, J.D.2
Hobbs, J.R.3
-
246
-
-
0026551007
-
Allogenic bone marrow transplantation in severe Gaucher disease
-
Tsai P, Lipton JM, Sahdev I, Najfeld V, Rankin LR, Slyper AH, Ludman MD, Grabowski GA. Allogenic bone marrow transplantation in severe Gaucher disease. Pediatr Res 31:503-507, 1992.
-
(1992)
Pediatr Res
, vol.31
, pp. 503-507
-
-
Tsai, P.1
Lipton, J.M.2
Sahdev, I.3
Najfeld, V.4
Rankin, L.R.5
Slyper, A.H.6
Ludman, M.D.7
Grabowski, G.A.8
-
247
-
-
0025219491
-
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease
-
Fink JK, Correll PH, Perry LK, Brady RO, Karlsson S. Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. Proc Natl Acad Sci USA 87:2334-2338, 1990.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 2334-2338
-
-
Fink, J.K.1
Correll, P.H.2
Perry, L.K.3
Brady, R.O.4
Karlsson, S.5
-
248
-
-
0026779725
-
Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow
-
Nolta JA, Yu XJ, Bahner I, Kohn DB. Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow. J Clin Invest 90:342-348, 1992.
-
(1992)
J Clin Invest
, vol.90
, pp. 342-348
-
-
Nolta, J.A.1
Yu, X.J.2
Bahner, I.3
Kohn, D.B.4
-
249
-
-
0026652473
-
High levels of human glucocerebrosidase activity in macrophages of long-term reconsititued mice after retroviral infection of hematopoietic stem cells
-
Correl PH, Colilla S, Dave HPG, Karlsson S. High levels of human glucocerebrosidase activity in macrophages of long-term reconsititued mice after retroviral infection of hematopoietic stem cells. Blood 80:331-336, 1992.
-
(1992)
Blood
, vol.80
, pp. 331-336
-
-
Correl, P.H.1
Colilla, S.2
Dave, H.P.G.3
Karlsson, S.4
-
250
-
-
0026441148
-
Efficient transfer and sustained high expression of the human glucocerebrosidase gene in mice and their functional macrophages following transplantation of bone marrow transduced by a retroviral vector
-
Ohashi T, Boggs S, Robbins P, Bahnson A, Patrene K, Wei F-S, Wei J-F, Li J, Lucht L, Fei Y, Clark S, Kimak M, He H, Mowery-Rushton P, Barranger JA. Efficient transfer and sustained high expression of the human glucocerebrosidase gene in mice and their functional macrophages following transplantation of bone marrow transduced by a retroviral vector. Proc Natl Acad Sci USA 89:11332-11336, 1992.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11332-11336
-
-
Ohashi, T.1
Boggs, S.2
Robbins, P.3
Bahnson, A.4
Patrene, K.5
Wei, F.-S.6
Wei, J.-F.7
Li, J.8
Lucht, L.9
Fei, Y.10
Clark, S.11
Kimak, M.12
He, H.13
Mowery-Rushton, P.14
Barranger, J.A.15
-
251
-
-
0343589989
-
The mechanism of inhibition of bone resorption by diphosphonates
-
Christiansen C, ed.
-
Flanagan AM, Chambers TJ. The mechanism of inhibition of bone resorption by diphosphonates. In: Christiansen C, ed. Osteoporosis 2. Glostrup: Osteopress Aps, 1987; pp. 776-777.
-
(1987)
Osteoporosis 2. Glostrup: Osteopress Aps
, pp. 776-777
-
-
Flanagan, A.M.1
Chambers, T.J.2
-
253
-
-
0342284843
-
Possible mechanisms of action of bisphosphonates: Inhibition of osteoclast-like cell formation in human marrow cultures
-
Hughes DE, MacDonald BR, Russell RGG. Possible mechanisms of action of bisphosphonates: inhibition of osteoclast-like cell formation in human marrow cultures. J Bone Miner Res 2:265, 1985.
-
(1985)
J Bone Miner Res
, vol.2
, pp. 265
-
-
Hughes, D.E.1
MacDonald, B.R.2
Russell, R.G.G.3
-
254
-
-
0021227256
-
Femoral neck fractures complicating Gaucher disease in children
-
Goldman AB, Jacobs B. Femoral neck fractures complicating Gaucher disease in children. Skelet Radiol 12:162-168, 1984.
-
(1984)
Skelet Radiol
, vol.12
, pp. 162-168
-
-
Goldman, A.B.1
Jacobs, B.2
-
256
-
-
0019363054
-
Advances in the treatment of inherited metabolic diseases
-
Desnick RJ, Grabowski GA. Advances in the treatment of inherited metabolic diseases. Adv Hum Genet 11:281-369, 1981.
-
(1981)
Adv Hum Genet
, vol.11
, pp. 281-369
-
-
Desnick, R.J.1
Grabowski, G.A.2
-
257
-
-
0016201884
-
Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease
-
Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. New Engl J Med 291:989-993, 1974.
-
(1974)
New Engl J Med
, vol.291
, pp. 989-993
-
-
Brady, R.O.1
Pentchev, P.G.2
Gal, A.E.3
Hibbert, S.R.4
Dekaban, A.S.5
-
258
-
-
0016632742
-
Investigations in enzyme replacement therapy in lipid storage diseases
-
Brady RO, Pentchev PG, Gal AG. Investigations in enzyme replacement therapy in lipid storage diseases. Fed Proc 34:1310-1315, 1975.
-
(1975)
Fed Proc
, vol.34
, pp. 1310-1315
-
-
Brady, R.O.1
Pentchev, P.G.2
Gal, A.G.3
-
259
-
-
0017684780
-
Enzyme replacement therapy in Gaucher's and Fabry's disease
-
Pentchev PG. Enzyme replacement therapy in Gaucher's and Fabry's disease. Ann Clin Lab Sci 7:251-253, 1977.
-
(1977)
Ann Clin Lab Sci
, vol.7
, pp. 251-253
-
-
Pentchev, P.G.1
-
260
-
-
0017752970
-
Enzyme replacement therapy in Gaucher's disease: Preliminary clinical trial of a new enzyme preparation
-
Beutler E, Dale GL, Guinto DE, Kuhl W. Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation. Proc Natl Acad Sci USA 74:4620-4623, 1977.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 4620-4623
-
-
Beutler, E.1
Dale, G.L.2
Guinto, D.E.3
Kuhl, W.4
-
261
-
-
0019827121
-
Repacement therapy in Gaucher disease
-
Beutler E, Dale GL, Kuhl W. Repacement therapy in Gaucher disease. Birth Defects 16:369-381, 1980.
-
(1980)
Birth Defects
, vol.16
, pp. 369-381
-
-
Beutler, E.1
Dale, G.L.2
Kuhl, W.3
-
262
-
-
0020014947
-
Gaucher disease: A century of delineation and research. Enzyme replacement therapy: Model and clinical studies
-
Beutler E, Dale GL. Gaucher disease: a century of delineation and research. Enzyme replacement therapy: model and clinical studies. Prog Clin Biol Res 95:703-716, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 703-716
-
-
Beutler, E.1
Dale, G.L.2
-
263
-
-
0018170526
-
Human beta-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells
-
Achord DT, Brot FE, Bell CE, Sly WS. Human beta-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells. Cell 15:269-278, 1978.
-
(1978)
Cell
, vol.15
, pp. 269-278
-
-
Achord, D.T.1
Brot, F.E.2
Bell, C.E.3
Sly, W.S.4
-
264
-
-
0344094038
-
Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages
-
Stahl PD, Rodman JS, Miller MJ, Schlesinger PH. Evidence for receptor-mediated binding of glycoproteins, glycoconjugates, and lysosomal glycosidases by alveolar macrophages. Proc Natl Acad Sci USA 75:1399-1403, 1978.
-
(1978)
Proc Natl Acad Sci USA
, vol.75
, pp. 1399-1403
-
-
Stahl, P.D.1
Rodman, J.S.2
Miller, M.J.3
Schlesinger, P.H.4
-
265
-
-
0018634472
-
An electron microscope autoradiographic study of the carbohydrate recognition systems in rat liver
-
Hubbard AL, Wilson G, Ashwell G, Stukenbrok H. An electron microscope autoradiographic study of the carbohydrate recognition systems in rat liver. J Cell Biol 83:47-64, 1979.
-
(1979)
J Cell Biol
, vol.83
, pp. 47-64
-
-
Hubbard, A.L.1
Wilson, G.2
Ashwell, G.3
Stukenbrok, H.4
-
267
-
-
0006465778
-
Molecular pathology and therapy of Gaucher disease
-
Barranger JA, Ohashi T, Hong CM, Tomich J, Aerts JFGM, Tager JM, Nolta JA, Sender LS, Weiler S, Kohn DB. Molecular pathology and therapy of Gaucher disease. Jpn J Inherit Metab Dis 51:45-71, 1989.
-
(1989)
Jpn J Inherit Metab Dis
, vol.51
, pp. 45-71
-
-
Barranger, J.A.1
Ohashi, T.2
Hong, C.M.3
Tomich, J.4
Aerts, J.F.G.M.5
Tager, J.M.6
Nolta, J.A.7
Sender, L.S.8
Weiler, S.9
Kohn, D.B.10
-
268
-
-
0025236339
-
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
-
Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87:1913-1916, 1990.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1913-1916
-
-
Barton, N.W.1
Furbish, F.S.2
Murray, G.J.3
Garfield, M.4
Brady, R.O.5
-
269
-
-
0026474627
-
A less costly regimen of alglucerase to treat Gaucher's disease
-
Figueroa ML, Rosenbloom BE, Kay A, Garver P, Thurston DW, Koziol JA, Gelbart T, Beutler E. A less costly regimen of alglucerase to treat Gaucher's disease. New Engl J Med 327:1632-1636, 1992.
-
(1992)
New Engl J Med
, vol.327
, pp. 1632-1636
-
-
Figueroa, M.L.1
Rosenbloom, B.E.2
Kay, A.3
Garver, P.4
Thurston, D.W.5
Koziol, J.A.6
Gelbart, T.7
Beutler, E.8
-
270
-
-
0027218354
-
Enzyme therapy in Gaucher disease type 1: Dosage efficacy and adverse effects in thirty-three patients treated for six to twenty-four months
-
Pastores G, Sibille A, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in thirty-three patients treated for six to twenty-four months. Blood 82:408-416, 1993.
-
(1993)
Blood
, vol.82
, pp. 408-416
-
-
Pastores, G.1
Sibille, A.2
Grabowski, G.A.3
-
271
-
-
0028359980
-
Low-dose enzyme replacement therapy for Gaucher's disease: Effects of age, sex, genotype and clinical features on response to treatment
-
Zimran A, Elstein D, Kannai R, Zevin S, Hadas-Halpern I, Levy-Lahad E, Cohen Y, Horowitz M, Abrahamov A. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype and clinical features on response to treatment. Am J Med 97:3-13, 1994.
-
(1994)
Am J Med
, vol.97
, pp. 3-13
-
-
Zimran, A.1
Elstein, D.2
Kannai, R.3
Zevin, S.4
Hadas-Halpern, I.5
Levy-Lahad, E.6
Cohen, Y.7
Horowitz, M.8
Abrahamov, A.9
-
272
-
-
0029066515
-
Individualised low-dose alglucerase therapy for type 1 Gaucher's disease
-
Hollak CE, Aerts JM, Goudsmit R, Phoa SS, Ek M, Van Weely S, von dem Borne AE, van Oers MH. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 345:1474-1478, 1995.
-
(1995)
Lancet
, vol.345
, pp. 1474-1478
-
-
Hollak, C.E.1
Aerts, J.M.2
Goudsmit, R.3
Phoa, S.S.4
Ek, M.5
Van Weely, S.6
Von Dem Borne, A.E.7
Van Oers, M.H.8
-
273
-
-
0029029221
-
Replacement therapy with imiglucerase for type 1 Gaucher's disease
-
Zimran A, Elstein D, Levy-Lahad E, Zevin S. Replacement therapy with imiglucerase for type 1 Gaucher's disease. Lancet 345:1479-1480, 1995.
-
(1995)
Lancet
, vol.345
, pp. 1479-1480
-
-
Zimran, A.1
Elstein, D.2
Levy-Lahad, E.3
Zevin, S.4
-
274
-
-
0027218354
-
Enzyme therapy in Gaucher disease type 1: Dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months
-
Pastores GM, Sibille AR, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 82:408-416, 1993.
-
(1993)
Blood
, vol.82
, pp. 408-416
-
-
Pastores, G.M.1
Sibille, A.R.2
Grabowski, G.A.3
-
275
-
-
0343154423
-
-
Califon, New Jersey: Gardiner-Caldwell SynerMed, 1 pp
-
Grabowski GA, Barton NW, Doppelt SH, Barranger JA, Brady RO, A clinician's guide to Gaucher disease: a treatment algorithm. Califon, New Jersey: Gardiner-Caldwell SynerMed, 1994; 1 pp.
-
(1994)
A Clinician's Guide to Gaucher Disease: A Treatment Algorithm
-
-
Grabowski, G.A.1
Barton, N.W.2
Doppelt, S.H.3
Barranger, J.A.4
Brady, R.O.5
-
276
-
-
0029155493
-
Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
-
Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, Rosen BR, Baker J, Niklason LT, Hill SC, Miller, SPF, Brady RO, Barton NW. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96:629-637, 1995.
-
(1995)
Pediatrics
, vol.96
, pp. 629-637
-
-
Rosenthal, D.I.1
Doppelt, S.H.2
Mankin, H.J.3
Dambrosia, J.M.4
Xavier, R.J.5
McKusick, K.A.6
Rosen, B.R.7
Baker, J.8
Niklason, L.T.9
Hill, S.C.10
Miller, S.P.F.11
Brady, R.O.12
Barton, N.W.13
-
277
-
-
0027216474
-
Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase
-
Richards S, Olson TA, McPherson JM. Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase. Blood 82:1402-1409, 1993.
-
(1993)
Blood
, vol.82
, pp. 1402-1409
-
-
Richards, S.1
Olson, T.A.2
McPherson, J.M.3
-
278
-
-
0028883136
-
Enzyme therapy in Gaucher disease type 1: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
Grabowski GA, Barton NW, Pastores G, Banerjee TK, McKee A, Parker C, Schiffmann R, Dambrosia JM, Hill SC, Brady RO. Enzyme therapy in Gaucher disease type 1: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122:33-39, 1995.
-
(1995)
Ann Intern Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
Banerjee, T.K.4
McKee, A.5
Parker, C.6
Schiffmann, R.7
Dambrosia, J.M.8
Hill, S.C.9
Brady, R.O.10
-
279
-
-
0028870426
-
Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes
-
Murray GJ, Oliver KL, Jin F-S, Brady RO. Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes. J Cell Biochem 57:208-217, 1995.
-
(1995)
J Cell Biochem
, vol.57
, pp. 208-217
-
-
Murray, G.J.1
Oliver, K.L.2
Jin, F.-S.3
Brady, R.O.4
-
280
-
-
0028963381
-
Immunoelectron-microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver kupffer cells
-
Murray GJ, Jin F-S. Immunoelectron-microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver kupffer cells. J Histochem Cytochem 43:149-158, 1995.
-
(1995)
J Histochem Cytochem
, vol.43
, pp. 149-158
-
-
Murray, G.J.1
Jin, F.-S.2
-
282
-
-
0030030138
-
Tissue distribution and half-lifes of intravenously administered alglucerase
-
Xu Y-H, Ponce E, Sun Y, Leonova T, Bove K, Witte DP, Grabowski GA. Tissue distribution and half-lifes of intravenously administered alglucerase. Pediatr Res 39:313-322, 1996.
-
(1996)
Pediatr Res
, vol.39
, pp. 313-322
-
-
Xu, Y.-H.1
Ponce, E.2
Sun, Y.3
Leonova, T.4
Bove, K.5
Witte, D.P.6
Grabowski, G.A.7
-
283
-
-
0029135190
-
Pathologic findings in Gaucher disease type 2 patients following enzyme therapy
-
Bove K, Daughtery C, Grabowski GA. Pathologic findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 26:1040-1045, 1995.
-
(1995)
Hum Pathol
, vol.26
, pp. 1040-1045
-
-
Bove, K.1
Daughtery, C.2
Grabowski, G.A.3
-
284
-
-
0027318762
-
Binding, internalization and degradation of mannose-terminated glucocerebrosidase by macrophages
-
Sato Y, Beutler E. Binding, internalization and degradation of mannose-terminated glucocerebrosidase by macrophages. J Clin Invest 91:1909-1917, 1993.
-
(1993)
J Clin Invest
, vol.91
, pp. 1909-1917
-
-
Sato, Y.1
Beutler, E.2
-
285
-
-
4243680374
-
Gaucher disease: Expression of active human acid ß-glucosidase in transgenic tobacco plants
-
Weissenborn D, Bennett S, Radin D, Ponce E, Grabowski GA, Oishi K, Cramer CL. Gaucher disease: Expression of active human acid ß-glucosidase in transgenic tobacco plants. Am J Hum Genet 57:A38, 1995.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Weissenborn, D.1
Bennett, S.2
Radin, D.3
Ponce, E.4
Grabowski, G.A.5
Oishi, K.6
Cramer, C.L.7
-
286
-
-
0029795625
-
Bioproduction of human enzymes in transgenic tobacco
-
in press
-
Cramer CL, Weissenborn D, Oishi K, Grabau EA, Bennett S, Ponce E, Grabowski GA, Radin DN. Bioproduction of human enzymes in transgenic tobacco. Ann New York Acad Sci (in press) 1996.
-
(1996)
Ann New York Acad Sci
-
-
Cramer, C.L.1
Weissenborn, D.2
Oishi, K.3
Grabau, E.A.4
Bennett, S.5
Ponce, E.6
Grabowski, G.A.7
Radin, D.N.8
-
287
-
-
0023754037
-
Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease
-
Ringdën O, Groth CG, Erikson A, Bäckman L, Granqvist S, Mänsson JE, Svennerholm L. Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. Transplantation 46:66-70, 1988.
-
(1988)
Transplantation
, vol.46
, pp. 66-70
-
-
Ringdën, O.1
Groth, C.G.2
Erikson, A.3
Bäckman, L.4
Granqvist, S.5
Mänsson, J.E.6
Svennerholm, L.7
-
288
-
-
0025333367
-
Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type
-
Erikson A, Groth CG, Mänsson JE, Percy A, Ringdën O, Svennerholm L. Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type. Acta Paediatr Scand 79:680-685, 1990.
-
(1990)
Acta Paediatr Scand
, vol.79
, pp. 680-685
-
-
Erikson, A.1
Groth, C.G.2
Mänsson, J.E.3
Percy, A.4
Ringdën, O.5
Svennerholm, L.6
-
289
-
-
0028921786
-
Ten years' experience of bone marrow transplantation for Gaucher disease
-
Ringden O, Groth CG, Erikson A, Granqvist S, Mansson JE, Sparrelid E. Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation 59:864-870, 1995.
-
(1995)
Transplantation
, vol.59
, pp. 864-870
-
-
Ringden, O.1
Groth, C.G.2
Erikson, A.3
Granqvist, S.4
Mansson, J.E.5
Sparrelid, E.6
-
290
-
-
0029154568
-
Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease
-
Erikson A, Astrom M, Mansson JE. Enzyme infusion therapy of the Norrbottnian (Type 3) Gaucher disease. Neuropediatrics 26:203-207, 1995.
-
(1995)
Neuropediatrics
, vol.26
, pp. 203-207
-
-
Erikson, A.1
Astrom, M.2
Mansson, J.E.3
-
291
-
-
0028351715
-
Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol
-
Xu L, Stahl SK, Dave HP, Schiffmann R, Correll PH, Kessler S, Karlsson S. Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol. Exp Hematol 22:223-230, 1994.
-
(1994)
Exp Hematol
, vol.22
, pp. 223-230
-
-
Xu, L.1
Stahl, S.K.2
Dave, H.P.3
Schiffmann, R.4
Correll, P.H.5
Kessler, S.6
Karlsson, S.7
-
292
-
-
0026178772
-
Toward gene therapy for Gaucher disease
-
Kohn DB, Nolta JA, Weinthal J, Bahner I, Yu XJ, Lilley J, Crooks GM. Toward gene therapy for Gaucher disease. Hum Gene Ther 2:101-105, 1991.
-
(1991)
Hum Gene Ther
, vol.2
, pp. 101-105
-
-
Kohn, D.B.1
Nolta, J.A.2
Weinthal, J.3
Bahner, I.4
Yu, X.J.5
Lilley, J.6
Crooks, G.M.7
-
293
-
-
0028329894
-
Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation
-
Krall WJ, Challita PM, Permutter LS, Skelton DC, Kohn DB. Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood 83:2727-2748, 1994.
-
(1994)
Blood
, vol.83
, pp. 2727-2748
-
-
Krall, W.J.1
Challita, P.M.2
Permutter, L.S.3
Skelton, D.C.4
Kohn, D.B.5
-
294
-
-
0029055941
-
Analysis of optimal conditions for retroviral-mediated transduction of primative human hematopoietic cells
-
Nolta JA, Smorgorzewka EM, Kohn DB. Analysis of optimal conditions for retroviral-mediated transduction of primative human hematopoietic cells. Blood 86:101-110, 1995.
-
(1995)
Blood
, vol.86
, pp. 101-110
-
-
Nolta, J.A.1
Smorgorzewka, E.M.2
Kohn, D.B.3
-
295
-
-
0020021945
-
The Gaucher mouse
-
Kanfer JN, Stephens MC, Singh H, Legier G. The Gaucher mouse. Prog Clin Biol Res 95:627-644, 1982.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 627-644
-
-
Kanfer, J.N.1
Stephens, M.C.2
Singh, H.3
Legier, G.4
-
296
-
-
0342284837
-
The hereditary mechanism of Gaucher's disease
-
Greon J. The hereditary mechanism of Gaucher's disease. Blood 3:1238-1249, 1948.
-
(1948)
Blood
, vol.3
, pp. 1238-1249
-
-
Greon, J.1
-
297
-
-
0029868603
-
Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) population
-
Kim J-W, Ponce E, Lai, M-Y, Liou B, Grabowski GA. Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) population. Hum Mutat 7:214-218, 1996.
-
(1996)
Hum Mutat
, vol.7
, pp. 214-218
-
-
Kim, J.-W.1
Ponce, E.2
Lai, M.-Y.3
Liou, B.4
Grabowski, G.A.5
-
298
-
-
0029057961
-
Five new Gaucher disease mutations
-
Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P. Five new Gaucher disease mutations. Blood Cell Mol Dis 21:20-24, 1995.
-
(1995)
Blood Cell Mol Dis
, vol.21
, pp. 20-24
-
-
Beutler, E.1
Gelbart, T.2
Demina, A.3
Zimran, A.4
LeCoutre, P.5
-
299
-
-
0343589973
-
Identification and expression of rare mutations in acid ß-glucosidase causing types 1 and 2 Gaucher disease
-
Miller EC, Grace ME, Pastores GM. Identification and expression of rare mutations in acid ß-glucosidase causing types 1 and 2 Gaucher disease. Am J Hum Genet 57:A246, 1995.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Miller, E.C.1
Grace, M.E.2
Pastores, G.M.3
-
300
-
-
0030139613
-
Gaucher disease: Four families with previously underdescribed mutations
-
in press
-
Beutler E, Gelbart T, Balicki D, Demina A, Adusumallj J, Elsas L, Grinzaid KA, Gitzelmann R, Superti-Furga A, Liou BB. Gaucher disease: four families with previously underdescribed mutations. Proc Assoc Am Phys (in press) 1996.
-
(1996)
Proc Assoc Am Phys
-
-
Beutler, E.1
Gelbart, T.2
Balicki, D.3
Demina, A.4
Adusumallj, J.5
Elsas, L.6
Grinzaid, K.A.7
Gitzelmann, R.8
Superti-Furga, A.9
Liou, B.B.10
-
301
-
-
0025882789
-
Three unique base pair changes in a family with Gaucher disease
-
Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M. Three unique base pair changes in a family with Gaucher disease. Hum Genet 87:328-332, 1991.
-
(1991)
Hum Genet
, vol.87
, pp. 328-332
-
-
Eyal, N.1
Firon, N.2
Wilder, S.3
Kolodny, E.H.4
Horowitz, M.5
-
302
-
-
0025973846
-
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients
-
Latham TE, Theophilus BD, Grabowski GA, Smith FI. Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. DNA Cell Biol 10:15-21, 1991.
-
(1991)
DNA Cell Biol
, vol.10
, pp. 15-21
-
-
Latham, T.E.1
Theophilus, B.D.2
Grabowski, G.A.3
Smith, F.I.4
-
303
-
-
0029024220
-
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease
-
Choy FY, Wei C. Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. Hum Mutat 5:345-347, 1995.
-
(1995)
Hum Mutat
, vol.5
, pp. 345-347
-
-
Choy, F.Y.1
Wei, C.2
-
304
-
-
0026347931
-
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients
-
Kawame H, Eto Y. A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. Am J Hum Genet 49:1378-1380, 1991.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1378-1380
-
-
Kawame, H.1
Eto, Y.2
-
305
-
-
0027035014
-
Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants
-
He G-S, Grace ME, Grabowski GA. Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. Hum Mutat 1:423-427, 1992.
-
(1992)
Hum Mutat
, vol.1
, pp. 423-427
-
-
He, G.-S.1
Grace, M.E.2
Grabowski, G.A.3
-
306
-
-
0025297048
-
Gaucher disease associated with a unique Kpn1 restriction site: Identification of the amino-acid substitution
-
Beutler E, Gelbart T. Gaucher disease associated with a unique Kpn1 restriction site: identification of the amino-acid substitution. Ann Hum Genet 54:149-153, 1990.
-
(1990)
Ann Hum Genet
, vol.54
, pp. 149-153
-
-
Beutler, E.1
Gelbart, T.2
-
307
-
-
0028158359
-
Two new Gaucher disease mutations
-
Beutler E, Gelbart T. Two new Gaucher disease mutations. Hum Genet 93:209-210, 1994.
-
(1994)
Hum Genet
, vol.93
, pp. 209-210
-
-
Beutler, E.1
Gelbart, T.2
-
308
-
-
0026541796
-
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms
-
Kawame H, Hasegawa Y, Eto Y, Maekawa K. Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum Genet 90:294-296, 1992.
-
(1992)
Hum Genet
, vol.90
, pp. 294-296
-
-
Kawame, H.1
Hasegawa, Y.2
Eto, Y.3
Maekawa, K.4
-
309
-
-
0027371940
-
A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease
-
Walley AJ, Harris A. A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet 2:1737-1738, 1993.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1737-1738
-
-
Walley, A.J.1
Harris, A.2
-
310
-
-
0028142240
-
Y418C: A novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl1 site
-
Tuteja R, Tutega N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle FE. Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl1 site. Hum Genet 94:314-315, 1994.
-
(1994)
Hum Genet
, vol.94
, pp. 314-315
-
-
Tuteja, R.1
Tutega, N.2
Lilliu, F.3
Bembi, B.4
Galanello, R.5
Cao, A.6
Baralle, F.E.7
-
311
-
-
0028352317
-
New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P
-
Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T. New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 3:1183-1184, 1994.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1183-1184
-
-
Uchiyama, A.1
Tomatsu, S.2
Kondo, N.3
Suzuki, Y.4
Shimozawa, N.5
Fukuda, S.6
Sukegawa, K.7
Taki, N.8
Inamori, H.9
Orii, T.10
-
312
-
-
0027219497
-
A novel splicing abnormality in a Japanese patient with Gaucher's disease
-
Ohshima T, Sasaki M, Matsuzaka T, Sakuragawa N. A novel splicing abnormality in a Japanese patient with Gaucher's disease. Hum Mol Genet 2:1497-1498, 1993.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1497-1498
-
-
Ohshima, T.1
Sasaki, M.2
Matsuzaka, T.3
Sakuragawa, N.4
-
313
-
-
0024420051
-
Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses
-
Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M. Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr 149:31-39, 1989.
-
(1989)
Eur J Pediatr
, vol.149
, pp. 31-39
-
-
Harzer, K.1
Paton, B.C.2
Poulos, A.3
Kustermann-Kuhn, B.4
Roggendorf, W.5
Grisar, T.6
Popp, M.7
-
314
-
-
0028924156
-
Regulation of the human acid ß-glucosidase promoter in multiple cell types
-
Doll RF, Bruce A, Smith FI. Regulation of the human acid ß-glucosidase promoter in multiple cell types. Biochim Biophys Acta 1261:57-67, 1995.
-
(1995)
Biochim Biophys Acta
, vol.1261
, pp. 57-67
-
-
Doll, R.F.1
Bruce, A.2
Smith, F.I.3
-
315
-
-
0029070929
-
Positions of the sulfhydryl groups and the disulfide bonds of human glucocerebrosidase
-
Lee Y, Kinoshtu H, Radke G, Weiler S, Barranger JA, Tomich JM. Positions of the sulfhydryl groups and the disulfide bonds of human glucocerebrosidase. J Prot Chem 14: 127-137, 1995.
-
(1995)
J Prot Chem
, vol.14
, pp. 127-137
-
-
Lee, Y.1
Kinoshtu, H.2
Radke, G.3
Weiler, S.4
Barranger, J.A.5
Tomich, J.M.6
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