-
1
-
-
0028018009
-
Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease
-
Brady R O, Murray G J, Barton N W. Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease. J Inher Metab Dis. 17:1994;510-519.
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 510-519
-
-
Brady, R.O.1
Murray, G.J.2
Barton, N.W.3
-
2
-
-
0023221342
-
Beneficial effect of pretransplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome
-
Hobbs J R, Jones K H, Shaw P J, Lindsay I, Hancock M. Beneficial effect of pretransplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet. I:1987;1111-1115.
-
(1987)
Lancet
, vol.1
, pp. 1111-1115
-
-
Hobbs, J.R.1
Jones, K.H.2
Shaw, P.J.3
Lindsay, I.4
Hancock, M.5
-
3
-
-
0029054529
-
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: Absence of the common Jewish 84GG and 1226G mutations
-
Ida H, Iwasawa K, Kawame H, Rennert O M, Maekawa K, Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet. 95:1995;717-720.
-
(1995)
Hum Genet
, vol.95
, pp. 717-720
-
-
Ida, H.1
Iwasawa, K.2
Kawame, H.3
Rennert, O.M.4
Maekawa, K.5
Eto, Y.6
-
4
-
-
0031043599
-
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations
-
Ida H, Rennert O M, Kawame H, Maekawa K, Eto Y. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. J Inher Metab Dis. 20:1997;67-73.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 67-73
-
-
Ida, H.1
Rennert, O.M.2
Kawame, H.3
Maekawa, K.4
Eto, Y.5
-
5
-
-
0027451553
-
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease
-
Patterson M C, Horowitz M, Abel R B. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease. Neurology. 43:1993;1993-1997.
-
(1993)
Neurology
, vol.43
, pp. 1993-1997
-
-
Patterson, M.C.1
Horowitz, M.2
Abel, R.B.3
-
6
-
-
0029900863
-
Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1
-
Ida H, Rennert O M, Ito T, Maekawa K, Eto Y. Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. Acta Paediatr Jpn. 38:1996;233-236.
-
(1996)
Acta Paediatr Jpn
, vol.38
, pp. 233-236
-
-
Ida, H.1
Rennert, O.M.2
Ito, T.3
Maekawa, K.4
Eto, Y.5
-
7
-
-
0027179946
-
Adult-type Gaucher disease in children: Genetic, clinical features and enzyme replacement therapy
-
Zevin S, Abrahamov A, Hadas-Halpern I. Adult-type Gaucher disease in children: genetic, clinical features and enzyme replacement therapy. QJM. 86:1993;565-573.
-
(1993)
QJM
, vol.86
, pp. 565-573
-
-
Zevin, S.1
Abrahamov, A.2
Hadas-Halpern, I.3
-
8
-
-
0026465017
-
Gaucher disease: Clinical, laboratory, radiologic and genetic features in 53 patients
-
Zimran A, Kay A, Saven A, Thurston D, Garver P, Beutler E. Gaucher disease: clinical, laboratory, radiologic and genetic features in 53 patients. Medicine. 71:1992;337-353.
-
(1992)
Medicine
, vol.71
, pp. 337-353
-
-
Zimran, A.1
Kay, A.2
Saven, A.3
Thurston, D.4
Garver, P.5
Beutler, E.6
-
9
-
-
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. 2:1989;349-352.
-
(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
-
10
-
-
0027442703
-
Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications
-
Sibille A, Eng C M, Kim S J, Pastores G, Grabowski G A. Phenotype/genotype correlations in Gaucher disease type 1: clinical and therapeutic implications. Am J Hum Genet. 52:1993;1094-1101.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1094-1101
-
-
Sibille, A.1
Eng, C.M.2
Kim, S.J.3
Pastores, G.4
Grabowski, G.A.5
-
11
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency - Macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton N W, Brady R O, Dambrosia J M. 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
-
12
-
-
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. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Int Med. 122:1995;33-39.
-
(1995)
Ann Int Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
-
13
-
-
0029846221
-
Acceleration of retarded growth in children with Gaucher disease in children with Gaucher disease after treatment with alglucerase
-
Kaplan P, Mazur A, Manor O. Acceleration of retarded growth in children with Gaucher disease in children with Gaucher disease after treatment with alglucerase. J Pediatr. 129:1996;149-153.
-
(1996)
J Pediatr
, vol.129
, pp. 149-153
-
-
Kaplan, P.1
Mazur, A.2
Manor, O.3
-
14
-
-
0029155493
-
Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
-
Rosenthal D I, Doppelt S H, Mankin H J. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 96:1996;629-637.
-
(1996)
Pediatrics
, vol.96
, pp. 629-637
-
-
Rosenthal, D.I.1
Doppelt, S.H.2
Mankin, H.J.3
-
15
-
-
0028921786
-
Ten years' experience of bone marrow transplantation for Gaucher disease
-
Ringdén O, Groth C G, Erikson A, Granqvist S, Månson J E, Sparrelid E. Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation. 59:1995;864-870.
-
(1995)
Transplantation
, vol.59
, pp. 864-870
-
-
Ringdén, O.1
Groth, C.G.2
Erikson, A.3
Granqvist, S.4
Månson, J.E.5
Sparrelid, E.6
-
16
-
-
0029161804
-
Management of Gaucher disease. Current status and future directions. A roundtable discussion
-
Duursma S A, Aerts J MFG, Belmatoug N. Management of Gaucher disease. Current status and future directions. A roundtable discussion. Seminars in Hematology. 32:1995;45-52.
-
(1995)
Seminars in Hematology
, vol.32
, pp. 45-52
-
-
Duursma, S.A.1
Aerts J. Mfg2
Belmatoug, N.3
-
17
-
-
0001211738
-
Gaucher disease
-
C. R Scriver, A. L Beaudet, W. S Sly, & P. Valle. New York: McGraw-Hill Book Co.
-
Beutler E, Grabowski G A. Gaucher disease. Scriver C R, Beaudet A L, Sly W S, Valle P. The Metabolic and Molecular Bases of Inherited Disease. 1995;2641-2670 McGraw-Hill Book Co. New York.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2641-2670
-
-
Beutler, E.1
Grabowski, G.A.2
|