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Article

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Journal of human genetics - 1 Jan 2001

Ashley G A, Shabbeer J, Yasuda M, Eng C M, Desnick R J

Abstract excerpt

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 40 unrelated families with the classical phenotype (absent alpha-Gal A activity) was determined in order to provide precise heterozygote detection and...

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Identifiers

PMID: 11322659
DOI: 10.1007/s100380170088

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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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