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Article

Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.

Journal of inherited metabolic disease - 1 Jan 2003

Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff C M, Beck M

Abstract excerpt

Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the...

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Identifiers

PMID: 14707510
DOI: 10.1023/b:boli.0000005658.14563.77

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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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