-
1
-
-
0001211738
-
Glucosylceramide lipidoses: Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York. NY, 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. NY, McGraw-Hill, 1995, p 2641
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2641
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
0029895220
-
Gaucher disease: A prototype for molecular medicine
-
Grabowski GA, Saal H, Wenstrup RJ, Barton NW: Gaucher disease: A prototype for molecular medicine. Crit Rev Hematol Oncol 23:25, 1996
-
(1996)
Crit Rev Hematol Oncol
, vol.23
, pp. 25
-
-
Grabowski, G.A.1
Saal, H.2
Wenstrup, R.J.3
Barton, N.W.4
-
3
-
-
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. N Engl J Med 324:1464, 1991
-
(1991)
N Engl J Med
, vol.324
, pp. 1464
-
-
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
-
4
-
-
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, 1995
-
(1995)
Ann Intern Med
, vol.122
, pp. 33
-
-
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
-
5
-
-
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, 1993
-
(1993)
Blood
, vol.82
, pp. 408
-
-
Pastores, G.1
Sibille, A.2
Grabowski, G.A.3
-
6
-
-
0029066515
-
Individualized 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: Individualized low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 345:1474, 1995
-
(1995)
Lancet
, vol.345
, pp. 1474
-
-
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
-
7
-
-
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. N Engl J Med 327:1632, 1992
-
(1992)
N Engl J Med
, vol.327
, pp. 1632
-
-
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
-
8
-
-
0030221533
-
Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement
-
Elstein D, Hadas-Halpern I, Itzchaki M, Lahad A, Abrahamov A, Zimran A: Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells, Molecules Dis 22:101, 1996
-
(1996)
Blood Cells, Molecules Dis
, vol.22
, pp. 101
-
-
Elstein, D.1
Hadas-Halpern, I.2
Itzchaki, M.3
Lahad, A.4
Abrahamov, A.5
Zimran, A.6
-
9
-
-
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, 1995
-
(1995)
Pediatrics
, vol.96
, pp. 629
-
-
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
-
10
-
-
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, 1993
-
(1993)
Blood
, vol.82
, pp. 1402
-
-
Richards, S.1
Olson, T.A.2
McPherson, J.M.3
-
11
-
-
0028157443
-
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace ME, Newman KM, Scheinker V, He G, Berg-Fussman A, Grabowski GA: Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 269:2283, 1994
-
(1994)
J Biol Chem
, vol.269
, pp. 2283
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
He, G.4
Berg-Fussman, A.5
Grabowski, G.A.6
-
12
-
-
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, 1990
-
(1990)
Clin Chim Acta
, vol.194
, pp. 161
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
-
13
-
-
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. N Engl J Med 316:570, 1987
-
(1987)
N Engl J Med
, vol.316
, pp. 570
-
-
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
-
14
-
-
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, 1991
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10544
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Sorge, J.4
West, C.5
-
15
-
-
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, 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, 1992
-
(1992)
Am J Hum Genet
, vol.51
, pp. 810
-
-
He, G.1
Grabowski, G.A.2
-
16
-
-
0024421899
-
Development of anti-idiotypic antibodies in a patient with factor VIII autoantibody
-
Tiarks C, Pechet L, Humphreys RE: Development of anti-idiotypic antibodies in a patient with factor VIII autoantibody. Am J Hematol 32:217, 1989
-
(1989)
Am J Hematol
, vol.32
, pp. 217
-
-
Tiarks, C.1
Pechet, L.2
Humphreys, R.E.3
-
17
-
-
0029920320
-
Neutralizing antiidiotypic antibodies to factor VIII inhibitors after desensitization in patients with hemophilia A
-
Gilles JG, Desqueper B, Lenk H, Vermylen J, Saint-Remy J: Neutralizing antiidiotypic antibodies to factor VIII inhibitors after desensitization in patients with hemophilia A. J Clin Invest 97:1382, 1996
-
(1996)
J Clin Invest
, vol.97
, pp. 1382
-
-
Gilles, J.G.1
Desqueper, B.2
Lenk, H.3
Vermylen, J.4
Saint-Remy, J.5
-
18
-
-
0030030138
-
Tissue distribution and half-lifes of intravenously administered alglucerase
-
Xu Y, 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, 1996
-
(1996)
Pediatr Res
, vol.39
, pp. 313
-
-
Xu, Y.1
Ponce, E.2
Sun, Y.3
Leonova, T.4
Bove, K.5
Witte, D.P.6
Grabowski, G.A.7
-
19
-
-
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, 1987
-
(1987)
Biochim Biophys Acta
, vol.915
, pp. 87
-
-
Osiecki-Newman, K.1
Fabbro, D.2
Legler, G.3
Desnick, R.J.4
Grabowski, G.A.5
|