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Article

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

Journal of inherited metabolic disease - 1 Jan 2004

Hanna R, McDonald M T, Sullivan J A, Mackey J F, Krishnamurthy V, Kishnani P S

Abstract excerpt

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.

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Identifiers

PMID: 15669686
DOI: 10.1023/b:boli.0000043027.80328.75

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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