Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.
Chabás
A
A
Institut de Bioquímica Clínica, Cerdanyola, Spain.
Cormand
B
B
Balcells
S
S
González-Duarte
R
R
Casanova
C
C
Colomer
J
J
Vilageliu
L
L
Grinberg
D
D
D000293:Adolescent; D005776:Gaucher Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D009154:Mutation