title: Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.
abstract: Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: R
authors.initials: R
authors.lastname: Hanna
authors.forename: M T
authors.initials: MT
authors.lastname: McDonald
authors.forename: J A
authors.initials: JA
authors.lastname: Sullivan
authors.forename: J F
authors.initials: JF
authors.lastname: Mackey
authors.forename: V
authors.initials: V
authors.lastname: Krishnamurthy
authors.forename: P S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005471:Fluoroscopy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010641:Phenotype; D011379:Prognosis