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Article

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet journal of rare diseases - 29 Jan 2020

Varela Patrícia, Mastroianni Kirsztajn Gianna, Motta Fabiana L, Martin Renan P, Turaça Lauro T, Ferrer Henrique L F, Gomes Caio P, Nicolicht Priscila, Mara Marins Maryana, Pessoa Juliana G, Braga Marion C, D'Almeida Vânia, Martins Ana Maria, Pesquero João B

Abstract excerpt

BACKGROUND: Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting doubts about the diagnosis and treatment. The α-Galactosidase A enzymatic activity in dried blood spot (DBS) samples are widely used for screening purposes;...

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Identifiers

PMID: 31996269
DOI: 10.1186/s13023-019-1274-3
PMCID: PMC6990533

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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