title: [Acute neuropathic (type 2) variant of Gaucher disease with mutation K198E].
authors.forename: E
authors.initials: E
authors.lastname: Espinosa-García
authors.forename: J C
authors.initials: JC
authors.lastname: Pérez-Poveda
authors.forename: O Y
authors.initials: OY
authors.lastname: Echeverry
authors.forename: L A
authors.initials: LA
authors.lastname: Barrera-Avellaneda
mesh_terms: 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