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Article

Functional characterization of novel variants found in patients with suspected Fabry disease.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2022

Varela-Calais Patrícia, Nicolicht Priscila, Paulo Martin Renan, Yamamoto Joyce, D'Almeida Vânia, Martins Ana Maria, Pesquero João Bosco

Abstract excerpt

The deficiency or absence of the lysosomal hydrolase α-Galactosidase A results in Fabry disease (FD), a rare and underdiagnosed X-linked disorder. The symptoms caused by FD have a direct relation with the variant present in the gene coding α-Galactosidase A (GLA) and enzyme residual activity, and it can vary drastically between men and women of the same family. Here, we present four novel variants found in...

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Identifiers

PMID: 35870541
DOI: 10.1016/j.cca.2022.07.012

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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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