[Acute neuropathic (type 2) variant of Gaucher disease with mutation K198E].
Espinosa-García
E
E
Pérez-Poveda
J C
JC
Echeverry
O Y
OY
Barrera-Avellaneda
L A
LA
D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation