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Article

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.

Journal of human genetics - 1 Nov 2016

Kim Ja Hye, Lee Beom Hee, Hyang Cho Ja, Kang Eungu, Choi Jin-Ho, Kim Gu-Hwan, Yoo Han-Wook

Abstract excerpt

Fabry disease is a progressive lysosomal storage disease caused by alpha-galactosidase A deficiency. This condition is characterized by progressive accumulation of glycosphingolipids with functional impairment in various organs, including the kidney, heart and cerebrovascular system. Enzyme replacement therapy (ERT) is essential because it attenuates the disease progression. The present study investigated the...

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Identifiers

PMID: 27334365
DOI: 10.1038/jhg.2016.78

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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