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Article

D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.

Neurology - 8 Nov 2022

Palaiodimou Lina, Stefanou Maria-Ioanna, Bakola Eleni, Papadopoulou Marianna, Kokotis Panagiotis, Vrettou Agathi-Rosa, Kapsia Eleni, Petras Dimitrios, Anastasakis Aris, Xifaras Nikolaos, Karachaliou Eleni, Touloumi Giota, Vlachopoulos Charalambos, Boletis Ioannis N, Giannopoulos Sotirios, Tsivgoulis Georgios, Zompola Christina

Abstract excerpt

BACKGROUND AND OBJECTIVES: There is accumulating evidence in the literature indicating a strong correlation between Fabry disease (FD) phenotypes and specific sequence variations in the Galactosidase Alpha (GLA) gene. Among them, the potential pathogenicity and clinical relevance of D313Y variation in patients with FD remain debated. METHODS: We performed a systematic review and meta-analysis of studies reporting...

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Identifiers

PMID: 36344272
DOI: 10.1212/WNL.0000000000201102

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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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