-
1
-
-
50549198437
-
Metabolism of glucocerebrosides, II: evidence of an enzymatic deficiency in Gaucher's disease
-
Brady R.O., Kanfer J.N., and Shapiro D. Metabolism of glucocerebrosides, II: evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun. 18 (1965) 221-225
-
(1965)
Biochem. Biophys. Res. Commun.
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
2
-
-
0001973683
-
Short communications: a deficiency of glucocerebrosidase in Gaucher's disease
-
Patrick A.D. Short communications: a deficiency of glucocerebrosidase in Gaucher's disease. Biochem. J. (1955) 97
-
(1955)
Biochem. J.
, pp. 97
-
-
Patrick, A.D.1
-
3
-
-
4744343655
-
Gaucher disease: complexity in a "simple" disorder
-
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol. Genet. Metab. 83 (2004) 6-15
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
4
-
-
0031436478
-
Gaucher's disease: clinical features and natural history
-
Cox T.M., and Schofield J.P. Gaucher's disease: clinical features and natural history. Baillieres Clin. Haematol. 10 (1997) 657-689
-
(1997)
Baillieres Clin. Haematol.
, vol.10
, pp. 657-689
-
-
Cox, T.M.1
Schofield, J.P.2
-
5
-
-
0000216808
-
Gaucher disease
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Beutler E., and Grabowski G.A. Gaucher disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 3636
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3636
-
-
Beutler, E.1
Grabowski, G.A.2
-
6
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton N.W., Brady R.O., Dambrosia J.M., Di Bisceglie A.M., et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 324 (1991) 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
-
7
-
-
0028883136
-
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
Grabowski G.A., Barton N.W., Pastores G., Dambrosia J.M., et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med. 122 (1995) 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
-
8
-
-
0029029221
-
Replacement therapy with imiglucerase for type 1 Gaucher's disease
-
Zimran A., Elstein D., Levy-Lahad E., Zevin S., et al. Replacement therapy with imiglucerase for type 1 Gaucher's disease. Lancet 345 8963 (1995) 1479-1480
-
(1995)
Lancet
, vol.345
, Issue.8963
, pp. 1479-1480
-
-
Zimran, A.1
Elstein, D.2
Levy-Lahad, E.3
Zevin, S.4
-
9
-
-
34248504877
-
A pharmacokinetic analysis of a novel enzyme replacement therapy with gene-activated(R) human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease
-
Zimran A., Loveday K., Fratazzi C., and Elstein D. A pharmacokinetic analysis of a novel enzyme replacement therapy with gene-activated(R) human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol. Dis. 39 1 (2007) 115-118
-
(2007)
Blood Cells Mol. Dis.
, vol.39
, Issue.1
, pp. 115-118
-
-
Zimran, A.1
Loveday, K.2
Fratazzi, C.3
Elstein, D.4
-
10
-
-
62849111312
-
A plant-derived recombinant human glucocerebrosidase enzyme - a preclinical and phase I investigation
-
Aviezer D., Brill-Almon E., Shaaltiel Y., Hashmueli S., et al. A plant-derived recombinant human glucocerebrosidase enzyme - a preclinical and phase I investigation. PLoS ONE 4 3 (2009) e4792
-
(2009)
PLoS ONE
, vol.4
, Issue.3
-
-
Aviezer, D.1
Brill-Almon, E.2
Shaaltiel, Y.3
Hashmueli, S.4
-
11
-
-
10744226382
-
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement
-
Cox T.M., Aerts J.M., Andria G., Beck M., et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J. Inherit. Metab. Dis. 26 (2003) 513-526
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 513-526
-
-
Cox, T.M.1
Aerts, J.M.2
Andria, G.3
Beck, M.4
-
12
-
-
73049111975
-
-
European Medicines Agency (EMEA). PRESS RELEASE. Supply shortages of Cerezyme and Fabrazyme - priority access for patients most in need of treatment recommended. 25-6-2009.
-
European Medicines Agency (EMEA). PRESS RELEASE. Supply shortages of Cerezyme and Fabrazyme - priority access for patients most in need of treatment recommended. 25-6-2009.
-
-
-
-
14
-
-
85080852560
-
Clinical monitoring after cessation of enzyme replacement therapy in M
-
vom Dahl S., Poll L.W., and Haussinger D. Clinical monitoring after cessation of enzyme replacement therapy in M. Gaucher. Br. J. Haematol. 113 (2001) 1084-1087
-
(2001)
Gaucher. Br. J. Haematol.
, vol.113
, pp. 1084-1087
-
-
vom Dahl, S.1
Poll, L.W.2
Haussinger, D.3
-
15
-
-
0034935596
-
Effects of imilglucerase withdrawal on an adult with Gaucher disease
-
Schwartz I.V., Karam S., Ashton-Prolla P., Michelin K., et al. Effects of imilglucerase withdrawal on an adult with Gaucher disease. Br. J. Haematol. 113 (2001) 1089
-
(2001)
Br. J. Haematol.
, vol.113
, pp. 1089
-
-
Schwartz, I.V.1
Karam, S.2
Ashton-Prolla, P.3
Michelin, K.4
-
16
-
-
0013117809
-
Cessation of enzyme replacement therapy in Gaucher disease
-
Grinzaid K.A., Geller E., Hanna S.L., and Elsas L.J. Cessation of enzyme replacement therapy in Gaucher disease. Genet. Med. 4 (2002) 427-433
-
(2002)
Genet. Med.
, vol.4
, pp. 427-433
-
-
Grinzaid, K.A.1
Geller, E.2
Hanna, S.L.3
Elsas, L.J.4
-
17
-
-
0344406999
-
Rebound hepatosplenomegaly in type 1 Gaucher disease
-
Toth J., Erdos M., and Marodi L. Rebound hepatosplenomegaly in type 1 Gaucher disease. Eur. J. Haematol. 70 (2003) 125-128
-
(2003)
Eur. J. Haematol.
, vol.70
, pp. 125-128
-
-
Toth, J.1
Erdos, M.2
Marodi, L.3
-
18
-
-
34447507878
-
Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease
-
Drelichman G., Ponce E., Basack N., et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J. Pediatr. 151 (2007) 197-201
-
(2007)
J. Pediatr.
, vol.151
, pp. 197-201
-
-
Drelichman, G.1
Ponce, E.2
Basack, N.3
-
19
-
-
73049111343
-
-
U.S. Cerezyme Stakeholders Working Group. Revised Guidance to the U.S. Gaucher Community: Management of Cerezyme® (imiglucerase for injection) Supply. 10-8-2009.
-
U.S. Cerezyme Stakeholders Working Group. Revised Guidance to the U.S. Gaucher Community: Management of Cerezyme® (imiglucerase for injection) Supply. 10-8-2009.
-
-
-
-
20
-
-
73049102308
-
-
European Medicines Agency (EMEA). Questions and answers on the shortages of Cerezyme and Fabrazyme. 14-8-2009.
-
European Medicines Agency (EMEA). Questions and answers on the shortages of Cerezyme and Fabrazyme. 14-8-2009.
-
-
-
-
21
-
-
0029066515
-
Individualised low-dose alglucerase therapy for type 1 Gaucher's disease
-
Hollak C.E.M., Aerts J.M., Goudsmit R., Phoa S.S., et al. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 345 (1995) 1474-1478
-
(1995)
Lancet
, vol.345
, pp. 1474-1478
-
-
Hollak, C.E.M.1
Aerts, J.M.2
Goudsmit, R.3
Phoa, S.S.4
-
22
-
-
73049101383
-
Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project
-
(Jul 16 Electronic publication ahead of print).
-
Giraldo P., Alfonso P., Atutxa K., Fernández-Galán M.A., et al. Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica (2009) (Jul 16 Electronic publication ahead of print).
-
(2009)
Haematologica
-
-
Giraldo, P.1
Alfonso, P.2
Atutxa, K.3
Fernández-Galán, M.A.4
-
23
-
-
34848916343
-
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies
-
Pastores G.M., Elstein D., Hrebícek M., and Zimran A. Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin. Ther. 29 (2007) 1645-1654
-
(2007)
Clin. Ther.
, vol.29
, pp. 1645-1654
-
-
Pastores, G.M.1
Elstein, D.2
Hrebícek, M.3
Zimran, A.4
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