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Article

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

Kidney international - 1 Sept 2003

Nakao Shoichiro, Kodama Chihaya, Takenaka Toshihiro, Tanaka Akihiro, Yasumoto Yuichiro, Yoshida Aichi, Kanzaki Tamotsu, Enriquez Annette L D, Eng Christine M, Tanaka Hiromitsu, Tei Chuwa, Desnick Robert J

Abstract excerpt

BACKGROUND: Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient alpha-galactosidase A (alpha-Gal A) activity. Renal failure is a major debilitating complication in classically affected males. To determine if this disorder is underdiagnosed in patients with en...

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Source

Identifiers

PMID: 12911529
DOI: 10.1046/j.1523-1755.2003.00160.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12911529-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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