title: [Type 1 Gaucher disease in a pediatric patient: 12 year's evolution].
abstract: A 14 years old patient, diagnosed in early childhood of type 1 Gaucher's disease is reported to show his unusual genotype and clinical course. The patient is heterozygous for mutation D409H, that in the homozygous patient determines an aggressive disease accompanied by neurological signs, and for a new mutation, which must be considered of mild effects. Early detection of bone involvement is emphasized as a factor to consider when indicating of enzyme replacement therapy.
authors.affiliation: Servicio de Hematología, Hospital de Sagunto, Valencia.
authors.forename: M
authors.initials: M
authors.lastname: García
authors.forename: C
authors.initials: C
authors.lastname: Casanova
authors.forename: A
authors.initials: A
authors.lastname: Chabás
authors.forename: E
authors.initials: E
authors.lastname: Viosca
authors.forename: B
authors.initials: B
authors.lastname: Martínez
mesh_terms: D000483:Alleles; D000842:Ankle / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics / Q000473:pathology; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D010146:Pain / Q000209:etiology; D017354:Point Mutation; D013163:Splenomegaly / Q000473:pathology
chemical_list: D005962:Glucosylceramidase