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Article

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

Pediatric research - 1 May 1998

Tayebi N, Reissner K J, Lau E K, Stubblefield B K, Klineburgess A C, Martin B M, Sidransky E

Abstract excerpt

Gaucher's disease, the inherited deficiency of glucocerebrosidase, manifests with vast phenotypic variation. Even among patients with type 2 (acute neuronopathic) Gaucher's disease, there is a spectrum of clinical presentations. DNA samples from 14 patients with type 2 Gaucher's disease with a course ranging from intrauterine death at 22 wk of gestation to survival until age 30 mo were studied. L444P was the only...

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Identifiers

PMID: 9585001
DOI: 10.1203/00006450-199805000-00003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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