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Article

A successful approach for the detection of Fabry patients in Argentina.

Clinical genetics - 1 Apr 2006

Rozenfeld P A, Tarabuso A, Ebner R, Ramallo G, Fossati C A

Abstract excerpt

Fabry disease is an X-linked lysosomal disorder caused by the deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). In males, the laboratory diagnosis is based on the demonstration of decreased levels of alpha-Gal A activity, while in females, the disease is diagnosed by the ide...

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PMID: 16630168
DOI: 10.1111/j.1399-0004.2006.00594.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16630168-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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