Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

被引：15

作者：

Chabas, A

Cormand, B

Balcells, S

GonzalezDuarte, R

Casanova, C

Colomer, J

Vilageliu, L

Grinberg, D

机构：

[1] UNIV BARCELONA,DEPT GENET,BARCELONA,SPAIN

[2] HOSP SAGUNTO,DEPT PEDIAT,VALENCIA,SPAIN

[3] HOSP ST JOAN DEU,DEPT NEUROL,BARCELONA,SPAIN

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1996年 / 19卷 / 06期

关键词：

D O I：

10.1007/BF01799179

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：798 / 800

页数：3

共 4 条

[1] GLUCOCEREBROSIDASE MUTATIONS IN GAUCHER DISEASE [J].

BEUTLER, E ;

DEMINA, A ;

GELBART, T .

MOLECULAR MEDICINE, 1994, 1 (01) :82-92

[2] UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION [J].

CHABAS, A ;

CORMAND, B ;

GRINBERG, D ;

BURGUERA, JM ;

BALCELLS, S ;

MERINO, JL ;

MATE, I ;

SOBRINO, JA ;

GONZALEZDUARTE, R ;

VILAGELIU, L .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (09) :740-742

[3] GAUCHER DISEASE IN SPANISH PATIENTS - ANALYSIS OF 8 MUTATIONS [J].

CORMAND, B ;

VILAGELIU, L ;

BURGUERA, JM ;

BALCELLS, S ;

GONZALEZDUARTE, R ;

GRINBERG, D ;

CHABAS, A .

HUMAN MUTATION, 1995, 5 (04) :303-309

[4]

EYAL N, 1991, HUM GENET, V87, P328

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