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Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2007

Wang Raymond Y, Lelis Alicia, Mirocha James, Wilcox William R

Abstract excerpt

PURPOSE: To determine if there is significant symptomatology in women with heterozygous alpha-galactosidase mutations. METHODS: Data from medical records of the 44 heterozygous females followed at Cedars-Sinai Medical Center were compiled and analyzed for symptoms of Fabry disease. Quality of life data were also analyzed. RESULTS: Seventy-six percent were referred due to an affected male relative; 76% reported...

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PMID: 17224688
DOI: 10.1097/gim.0b013e31802d8321

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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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