Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain
J Inherit Metab Dis
.
1996;19(6):798-800.
doi: 10.1007/BF01799179.
Authors
A Chabás
1
,
B Cormand
,
S Balcells
,
R González-Duarte
,
C Casanova
,
J Colomer
,
L Vilageliu
,
D Grinberg
Affiliation
1
Institut de Bioquímica Clínica, Cerdanyola, Spain.
PMID:
8982958
DOI:
10.1007/BF01799179
No abstract available
Publication types
Case Reports
MeSH terms
Adolescent
Gaucher Disease / genetics*
Gaucher Disease / pathology
Humans
Infant
Mutation*