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

Journal Article (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

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1023/b:boli.0000043027.80328.75


  • eng

Conference Location

  • United States