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Article

Fabry disease: a new approach for the screening of females in high-risk groups.

Clinical biochemistry - 1 May 2014

Pasqualim Gabriela, Simon Laura, Sperb-Ludwig Fernanda, Burin Maira Graef, Michelin-Tirelli Kristiane, Giugliani Roberto, Matte Ursula

Abstract excerpt

OBJECTIVE: Fabry disease (FD) is a rare X-linked inborn error of metabolism caused by deficient activity of lysosomal α-galactosidase A (α-GAL). Due to random X inactivation, α-GAL activity in heterozygous females ranges from very low to overlapping normal values. Determining this specific range and altering assays cutoffs could become a valuable tool for minimizing the need in DNA sequencing for screening of all...

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Identifiers

PMID: 24582695
DOI: 10.1016/j.clinbiochem.2014.02.014

Genes

GAL

Variants

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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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