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Article

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2006

Street Natalie Jansen, Yi Michael S, Bailey Laurie A, Hopkin Robert J

Abstract excerpt

PURPOSE: Fabry disease is an X-linked lysosomal disorder due to mutations in the GLA gene. Manifestations of the disease are documented in hemizygous males. Recent studies have indicated that women with GLA mutations may report symptoms. The impact on their health-related quality of life is unclear. This study compares the quality of life of obligate heterozygotes to a historical healthy control population and to...

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Source

Identifiers

PMID: 16778596
DOI: 10.1097/01.gim.0000223545.63012.5a

Genes

GLA

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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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