Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

Hanna, R; McDonald, MT; Sullivan, JA; Mackey, JF; Krishnamurthy, V; Kishnani, PS

Published Date

2004

Published In

Journal of Inherited Metabolic Disease

Volume / Issue

27 / 5

Start / End Page

687 - 690

PubMed ID

15669686

Pubmed Central ID

15669686

International Standard Serial Number (ISSN)

0141-8955

Digital Object Identifier (DOI)

10.1023/b:boli.0000043027.80328.75

Language

eng

Conference Location

United States