-
1
-
-
0000216808
-
Gaucher disease
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Beutler E, Grabowski GA (2001) Gaucher Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill. pp 3635-3668.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
0020014944
-
The pathology of gaucher disease
-
Lee RE (1982) The pathology of Gaucher disease. Prog Clin Biol Res 95: 177-217.
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 177-217
-
-
Lee, R.E.1
-
3
-
-
0000436145
-
From cytases to lysosomes
-
Deduve C (1964) From Cytases to Lysosomes. Fed Proc 23: 1045-1049.
-
(1964)
Fed Proc
, vol.23
, pp. 1045-1049
-
-
Deduve, C.1
-
4
-
-
0014352329
-
Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts
-
Fratantoni JC, Hall CW, Neufeld EF (1968) Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 162: 570-572.
-
(1968)
Science
, vol.162
, pp. 570-572
-
-
Fratantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
5
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency-macrophagetargeted glucocerebrosidase for Gaucher's disease
-
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, et al. (1991) Replacement therapy for inherited enzyme deficiency-macrophagetargeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464-1470.
-
(1991)
N 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
-
6
-
-
0028883136
-
Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, et al. (1995) Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122: 33-39.
-
(1995)
Ann Intern Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
Dambrosia, J.M.4
Banerjee, T.K.5
-
7
-
-
0029029221
-
Replacement therapy with imiglucerase for type 1 Gaucher's disease
-
Zimran A, Elstein D, Levy-Lahad E, Zevin S, Hadas-Halpern I, et al. (1995) Replacement therapy with imiglucerase for type 1 Gaucher's disease. Lancet 345: 1479-1480.
-
(1995)
Lancet
, vol.345
, pp. 1479-1480
-
-
Zimran, A.1
Elstein, D.2
Levy-Lahad, E.3
Zevin, S.4
Hadas-Halpern, I.5
-
8
-
-
0037159549
-
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
-
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, et al. (2002) Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 113: 112-119.
-
(2002)
Am J Med
, vol.113
, pp. 112-119
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
Kaplan, P.4
Kolodny, E.H.5
-
9
-
-
0033134795
-
A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived beta-glucocerebrosidase: Implications for clinical efficacy in treatment of Gaucher disease
-
Friedman B, Vaddi K, Preston C, Mahon E, Cataldo JR, et al. (1999) A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived beta-glucocerebrosidase: implications for clinical efficacy in treatment of Gaucher disease. Blood 93: 2807-2816.
-
(1999)
Blood
, vol.93
, pp. 2807-2816
-
-
Friedman, B.1
Vaddi, K.2
Preston, C.3
Mahon, E.4
Cataldo, J.R.5
-
10
-
-
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 (1993) 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)
Blood
, vol.82
, pp. 408-416
-
-
Pastores, G.M.1
Sibille, A.R.2
Grabowski, G.A.3
-
11
-
-
0029155493
-
Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
-
Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, et al. (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629-637.
-
(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
-
12
-
-
4444328072
-
Gaucher disease: Alendronate disodium improves bone mineral density in adults receiving enzyme therapy
-
Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, et al. (2004) Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 104: 1253-1257.
-
(2004)
Blood
, vol.104
, pp. 1253-1257
-
-
Wenstrup, R.J.1
Bailey, L.2
Grabowski, G.A.3
Moskovitz, J.4
Oestreich, A.E.5
-
13
-
-
33847274180
-
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
-
Charrow J, Dulisse B, Grabowski GA, Weinreb NJ (2007) The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 71: 205-211.
-
(2007)
Clin Genet
, vol.71
, pp. 205-211
-
-
Charrow, J.1
Dulisse, B.2
Grabowski, G.A.3
Weinreb, N.J.4
-
14
-
-
0029846221
-
Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase
-
Kaplan P, Mazur A, Manor O, Charrow J, Esplin J, et al. (1996) Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr 129: 149-153.
-
(1996)
J Pediatr
, vol.129
, pp. 149-153
-
-
Kaplan, P.1
Mazur, A.2
Manor, O.3
Charrow, J.4
Esplin, J.5
-
15
-
-
0026508344
-
Enzyme augmentation in moderate to life-threatening Gaucher disease
-
Fallet S, Grace ME, Sibille A, Mendelson DS, Shapiro RS, et al. (1992) Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res 31: 496-502.
-
(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
-
16
-
-
0026014938
-
Enzyme replacement therapy for Gaucher disease
-
Beutler E, Kay A, Saven A, Garver P, Thurston D, et al. (1991) Enzyme replacement therapy for Gaucher disease. Blood 78: 1183-1189.
-
(1991)
Blood
, vol.78
, pp. 1183-1189
-
-
Beutler, E.1
Kay, A.2
Saven, A.3
Garver, P.4
Thurston, D.5
-
17
-
-
56549109938
-
Acid beta-glucosidase: Insights from structural analysis and relevance to Gaucher disease therapy
-
Kacher Y, Brumshtein B, Boldin-Adamsky S, Toker L, Shainskaya A, et al. (2008) Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy. Biol Chem 389: 1361-1369.
-
(2008)
Biol Chem
, vol.389
, pp. 1361-1369
-
-
Kacher, Y.1
Brumshtein, B.2
Boldin-Adamsky, S.3
Toker, L.4
Shainskaya, A.5
-
18
-
-
62149099925
-
Doseresponse relationships for enzyme replacement therapy with imiglucerase/ alglucerase in patients with Gaucher disease type 1
-
Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, et al. (2009) Doseresponse relationships for enzyme replacement therapy with imiglucerase/ alglucerase in patients with Gaucher disease type 1. Genet Med 11: 92-100.
-
(2009)
Genet Med
, vol.11
, pp. 92-100
-
-
Grabowski, G.A.1
Kacena, K.2
Cole, J.A.3
Hollak, C.E.4
Zhang, L.5
-
19
-
-
9144251964
-
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: Consensus recommendations
-
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. (2004) Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 144: 112-120.
-
(2004)
J Pediatr
, vol.144
, pp. 112-120
-
-
Charrow, J.1
Andersson, H.C.2
Kaplan, P.3
Kolodny, E.H.4
Mistry, P.5
-
20
-
-
0027318762
-
Binding, internalization, and degradation of mannoseterminated glucocerebrosidase by macrophages
-
Sato Y, Beutler E (1993) Binding, internalization, and degradation of mannoseterminated glucocerebrosidase by macrophages. J Clin Invest 91: 1909-1917.
-
(1993)
J Clin Invest
, vol.91
, pp. 1909-1917
-
-
Sato, Y.1
Beutler, E.2
-
21
-
-
0019475525
-
Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation
-
Furbish FS, Steer CJ, Krett NL, Barranger JA (1981) Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta 673: 425-434.
-
(1981)
Biochim Biophys Acta
, vol.673
, pp. 425-434
-
-
Furbish, F.S.1
Steer, C.J.2
Krett, N.L.3
Barranger, J.A.4
-
22
-
-
0029664406
-
Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells
-
Bijsterbosch MK, Donker W, van de Bilt H, van Weely S, van Berkel TJ, et al. (1996) Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells. Eur J Biochem 237: 344-349.
-
(1996)
Eur J Biochem
, vol.237
, pp. 344-349
-
-
Bijsterbosch, M.K.1
Donker, W.2
van de Bilt, H.3
van Weely, S.4
van Berkel, T.J.5
-
23
-
-
0030030138
-
Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues
-
Xu YH, Ponce E, Sun Y, Leonova T, Bove K, et al. (1996) Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues. Pediatr Res 39: 313-322.
-
(1996)
Pediatr Res
, vol.39
, pp. 313-322
-
-
Xu, Y.H.1
Ponce, E.2
Sun, Y.3
Leonova, T.4
Bove, K.5
-
24
-
-
0029135190
-
Pathological findings in Gaucher disease type 2 patients following enzyme therapy
-
Bove KE, Daugherty C, Grabowski GA (1995) Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 26: 1040-1045.
-
(1995)
Hum Pathol
, vol.26
, pp. 1040-1045
-
-
Bove, K.E.1
Daugherty, C.2
Grabowski, G.A.3
-
25
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, et al. (2004) Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41: 4-14.
-
(2004)
Semin Hematol
, vol.41
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
Andria, G.4
Cox, T.M.5
-
26
-
-
0022994043
-
Lec1A Chinese hamster ovary cell mutants appear to arise from a structural alteration in N-acetylglucosaminyltransferase I
-
Chaney W, Stanley P (1986) Lec1A Chinese hamster ovary cell mutants appear to arise from a structural alteration in N-acetylglucosaminyltransferase I. J Biol Chem 261: 10551-10557.
-
(1986)
J Biol Chem
, vol.261
, pp. 10551-10557
-
-
Chaney, W.1
Stanley, P.2
-
27
-
-
0025076063
-
Kifunensine, a potent inhibitor of the glycoprotein processing mannosidase I
-
Elbein AD, Tropea JE, Mitchell M, Kaushal GP (1990) Kifunensine, a potent inhibitor of the glycoprotein processing mannosidase I. J Biol Chem 265: 15599-15605.
-
(1990)
J Biol Chem
, vol.265
, pp. 15599-15605
-
-
Elbein, A.D.1
Tropea, J.E.2
Mitchell, M.3
Kaushal, G.P.4
-
28
-
-
0028157443
-
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA (1994) Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 269: 2283-2291.
-
(1994)
J Biol Chem
, vol.269
, pp. 2283-2291
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
Berg-Fussman, A.4
Grabowski, G.A.5
-
29
-
-
33645243798
-
Analyses of variant acid beta-glucosidases: Effects of Gaucher disease mutations
-
Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, et al. (2006) Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem 281: 4242-4253.
-
(2006)
J Biol Chem
, vol.281
, pp. 4242-4253
-
-
Liou, B.1
Kazimierczuk, A.2
Zhang, M.3
Scott, C.R.4
Hegde, R.S.5
-
30
-
-
0142153023
-
Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder
-
Brooks DA, Kakavanos R, Hopwood JJ (2003) Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder. Trends Mol Med 9: 450-453.
-
(2003)
Trends Mol Med
, vol.9
, pp. 450-453
-
-
Brooks, D.A.1
Kakavanos, R.2
Hopwood, J.J.3
-
31
-
-
36348943468
-
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
-
Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA (2007) Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr 19: 628-635.
-
(2007)
Curr Opin Pediatr
, vol.19
, pp. 628-635
-
-
Burrow, T.A.1
Hopkin, R.J.2
Leslie, N.D.3
Tinkle, B.T.4
Grabowski, G.A.5
-
32
-
-
0033559287
-
Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeat administration
-
Rosenberg M, Kingma W, Fitzpatrick MA, Richards SM (1999) Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood 93: 2081-2088.
-
(1999)
Blood
, vol.93
, pp. 2081-2088
-
-
Rosenberg, M.1
Kingma, W.2
Fitzpatrick, M.A.3
Richards, S.M.4
-
33
-
-
0142244182
-
Viable mouse models of acid beta-glucosidase deficiency: The defect in Gaucher disease
-
Xu YH, Quinn B, Witte D, Grabowski GA (2003) Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol 163: 2093-2101.
-
(2003)
Am J Pathol
, vol.163
, pp. 2093-2101
-
-
Xu, Y.H.1
Quinn, B.2
Witte, D.3
Grabowski, G.A.4
-
34
-
-
35348989145
-
Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: Insights into the mechanism of chemical chaperone action in Gaucher disease
-
Brumshtein B, Greenblatt HM, Butters TD, Shaaltiel Y, Aviezer D, et al. (2007) Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease. J Biol Chem 282: 29052-29058.
-
(2007)
J Biol Chem
, vol.282
, pp. 29052-29058
-
-
Brumshtein, B.1
Greenblatt, H.M.2
Butters, T.D.3
Shaaltiel, Y.4
Aviezer, D.5
-
35
-
-
33846379973
-
Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease
-
Lieberman RL, Wustman BA, Huertas P, Powe AC, Jr., Pine CW, et al. (2007) Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat Chem Biol 3: 101-107.
-
(2007)
Nat Chem Biol
, vol.3
, pp. 101-107
-
-
Lieberman, R.L.1
Wustman, B.A.2
Huertas, P.3
Powe Jr., A.C.4
Pine, C.W.5
-
36
-
-
21244456941
-
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol- B-epoxide. Implications for Gaucher disease
-
Premkumar L, Sawkar AR, Boldin-Adamsky S, Toker L, Silman I, et al. (2005) X-ray structure of human acid-beta-glucosidase covalently bound to conduritol- B-epoxide. Implications for Gaucher disease. J Biol Chem 280: 23815-23819.
-
(2005)
J Biol Chem
, vol.280
, pp. 23815-23819
-
-
Premkumar, L.1
Sawkar, A.R.2
Boldin-Adamsky, S.3
Toker, L.4
Silman, I.5
-
37
-
-
0021126494
-
Determination of blood volume in the mouse with 51chromium-labelled erythrocytes
-
Sluiter W, Oomens LW, Brand A, Van Furth R (1984) Determination of blood volume in the mouse with 51chromium-labelled erythrocytes. J Immunol Methods 73: 221-225.
-
(1984)
J Immunol Methods
, vol.73
, pp. 221-225
-
-
Sluiter, W.1
Oomens, L.W.2
Brand, A.3
van Furth, R.4
-
38
-
-
0023006153
-
Monocyte/macrophage-reactive monoclonal antibody Ki-M6 recognizes an intracytoplasmic antigen
-
Parwaresch MR, Radzun HJ, Kreipe H, Hansmann ML, Barth J (1986) Monocyte/macrophage-reactive monoclonal antibody Ki-M6 recognizes an intracytoplasmic antigen. Am J Pathol 125: 141-151.
-
(1986)
Am J Pathol
, vol.125
, pp. 141-151
-
-
Parwaresch, M.R.1
Radzun, H.J.2
Kreipe, H.3
Hansmann, M.L.4
Barth, J.5
-
39
-
-
0022650774
-
Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase
-
Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, et al. (1986) Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem 261: 50-53.
-
(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
-
40
-
-
0028366092
-
Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase
-
Qi X, Leonova T, Grabowski GA (1994) Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase. J Biol Chem 269: 16746-16753.
-
(1994)
J Biol Chem
, vol.269
, pp. 16746-16753
-
-
Qi, X.1
Leonova, T.2
Grabowski, G.A.3
-
41
-
-
0023158587
-
Gaucher disease: Genetic heterogeneity within and among the subtypes detected by immunoblotting
-
Fabbro D, Desnick RJ, Grabowski GA (1987) Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet 40: 15-31.
-
(1987)
Am J Hum Genet
, vol.40
, pp. 15-31
-
-
Fabbro, D.1
Desnick, R.J.2
Grabowski, G.A.3
-
42
-
-
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 (1989) 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)
Am J Hum Genet
, vol.44
, pp. 741-750
-
-
Bergmann, J.E.1
Grabowski, G.A.2
-
43
-
-
70849126444
-
Characterization of gene-activated human acid-{beta}-glucosidase: Crystal structure, glycan composition, and internalization into macrophages
-
Brumshtein B, Salinas P, Peterson B, Chan V, Silman I, et al. (2010) Characterization of gene-activated human acid-{beta}-glucosidase: Crystal structure, glycan composition, and internalization into macrophages. Glycobiology 20: 24-32.
-
(2010)
Glycobiology
, vol.20
, pp. 24-32
-
-
Brumshtein, B.1
Salinas, P.2
Peterson, B.3
Chan, V.4
Silman, I.5
-
44
-
-
34447309572
-
Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease
-
Van Patten SM, Hughes H, Huff MR, Piepenhagen PA, Waire J, et al. (2007) Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease. Glycobiology 17: 467-478.
-
(2007)
Glycobiology
, vol.17
, pp. 467-478
-
-
van Patten, S.M.1
Hughes, H.2
Huff, M.R.3
Piepenhagen, P.A.4
Waire, J.5
-
45
-
-
28144437047
-
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy
-
Du H, Levine M, Ganesa C, Witte DP, Cole ES, et al. (2005) The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Am J Hum Genet 77: 1061-1074.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 1061-1074
-
-
Du, H.1
Levine, M.2
Ganesa, C.3
Witte, D.P.4
Cole, E.S.5
-
46
-
-
72949102806
-
Enzyme therapy for the treatment of type 1 Gaucher disease: Clinical outcomes and dose - response relationships
-
Hollak CE, de Fost M, van Dussen L, Vom Dahl S, Aerts JM (2009) Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships. Expert Opin Pharmacother 10: 2641-2652.
-
(2009)
Expert Opin Pharmacother
, vol.10
, pp. 2641-2652
-
-
Hollak, C.E.1
de Fost, M.2
van Dussen, L.3
Vom Dahl, S.4
Aerts, J.M.5
-
47
-
-
34249306894
-
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease
-
McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, et al. (2007) A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab 91: 259-267.
-
(2007)
Mol Genet Metab
, vol.91
, pp. 259-267
-
-
McEachern, K.A.1
Fung, J.2
Komarnitsky, S.3
Siegel, C.S.4
Chuang, W.L.5
-
48
-
-
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, et al. (1986) Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci U S A 83: 1660-1664.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 1660-1664
-
-
Dinur, T.1
Osiecki, K.M.2
Legler, G.3
Gatt, S.4
Desnick, R.J.5
-
49
-
-
25444512703
-
Gaucher disease mouse models: Point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants
-
Sun Y, Quinn B, Witte DP, Grabowski GA (2005) Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res 46: 2102-2113.
-
(2005)
J Lipid Res
, vol.46
, pp. 2102-2113
-
-
Sun, Y.1
Quinn, B.2
Witte, D.P.3
Grabowski, G.A.4
-
50
-
-
0034541230
-
The role of macrophage inflammatory protein-1 alpha/CCL3 in regulation of T cell-mediated immunity to Cryptococcus neoformans infection
-
Olszewski MA, Huffnagle GB, McDonald RA, Lindell DM, Moore BB, et al. (2000) The role of macrophage inflammatory protein-1 alpha/CCL3 in regulation of T cell-mediated immunity to Cryptococcus neoformans infection. J Immunol 165: 6429-6436.
-
(2000)
J Immunol
, vol.165
, pp. 6429-6436
-
-
Olszewski, M.A.1
Huffnagle, G.B.2
McDonald, R.A.3
Lindell, D.M.4
Moore, B.B.5
|