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Article

A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2004

Rosenthal David, Lien Yeong-Hau H, Lager Donna, Lai Li-Wen, Shang Shuhua, Leung Nelson, Fervenza Fernando C

Abstract excerpt

A 65-year-old man presented to our institution for workup of proteinuria. His serum creatinine level was 1.7 mg/dL (130 micromol/L), and he had proteinuria with protein of almost 5 g/24 h. Fabry disease was diagnosed by means of kidney biopsy and low serum and leukocyte levels of alpha-galactosidase A. Review of his history, family history, physical examinations, and diagnostic studies did not show other findings...

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Source

Identifiers

PMID: 15492942

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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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