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