title: Gaucher disease: report of de novo GBA mutation in a Spanish family.
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocovi
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
mesh_terms: D000328:Adult; D000483:Alleles; D005190:Family; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013030:Spain
chemical_list: D005962:Glucosylceramidase