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Article

Fabry disease in W162C mutation: a case report of two patients and a review of literature.

BMC neurology - 5 Apr 2024

Furia Alessandro, Ditaranto Raffaello, Biagini Elena, Parisi Vanda, Incensi Alex, Parisini Sara, Liguori Rocco, Donadio Vincenzo

Abstract excerpt

BACKGROUND: Fabry disease is a multisystemic disorder characterized by deposition of globotriaosylceramide (Gb3) and its deacylated form in multiple organs, sometimes localized in specific systems such as the nervous or cardiovascular system. As disease-modifying therapies are now available, early diagnosis is paramount to improving life quality and clinical outcomes. Despite the widespread use of non-invasive...

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Identifiers

PMID: 38580906
DOI: 10.1186/s12883-024-03540-3
PMCID: PMC10996216

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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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