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Article

Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.

Journal of inherited metabolic disease - 1 Sept 2020

Effraimidis Grigoris, Rasmussen Åse K, Bundgaard Henning, Sørensen Søren S, Feldt-Rasmussen Ulla

Abstract excerpt

The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical relevance. We performed a systematic review of peer-reviewed publications and case-reports on individuals and populations harbouring the p.Asp313Tyr variant. Overall,...

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Identifiers

PMID: 32246457
DOI: 10.1002/jimd.12240

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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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