Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.

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Article

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.

Medicine - 1 Nov 1992

Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E

Abstract excerpt

We have reviewed our experiences with the clinical, laboratory, radiologic, and genetic features of 53 patients with Gaucher disease. Most were evaluated during early adult life, with a mean age of 33 years. Our patients were evaluated in a referral center, and therefore the data need to be interpreted with caution when applied to the general patient population, which includes a greater proportion of very mild...

Topics

Adolescent
Adult
Aged
Bone Diseases, Metabolic
Child
Child, Preschool
DNA Mutational Analysis
Female
Follow-Up Studies
Gaucher Disease
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Liver Diseases

Lung Diseases

Male

Middle Aged

Radiography

Source

Open in PubMed

Identifiers

PMID: 1435229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1435229-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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