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Diagnosis and Management of Fabry Disease in High-Risk Renal Disease Patients in Taiwan: A Single Center Study.

Transplantation proceedings - 1 May 2023

Shih Chia-Yu, You Zi-Hong, Tsai Shang-Feng, Wu Ming-Ju, Yu Tung-Min, Chuang Ya-Wen, Chen Cheng-Hsu

Abstract excerpt

BACKGROUND: Fabry disease (FD) is an X-linked inborn error of lysosomal storage disorder, a deficiency in lysosomal hydrolase α-galactosidase A activity due to pathogenic variants in the GLA gene. Accumulation of globotriaosylceramide in multiple organs contributes to end-stage kidney disease, heart failure, and cerebrovascular accidents. METHODS: We began the FD screening program by involving male patients older...

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PMID: 37230899
DOI: 10.1016/j.transproceed.2023.03.012

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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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