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Article

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

American journal of human genetics - 1 Jun 1993

Sibille A, Eng C M, Kim S J, Pastores G, Grabowski G A

Abstract excerpt

Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among Ashkenazi Jews. Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic involvement. To test the hypothesis that this phenotypic variability was due to genetic compounds of several different mutant alleles, 161 symptomatic patients with Gaucher...

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PMID: 8503443
PMCID: PMC1682271

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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