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Article

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Orphanet journal of rare diseases - 10 Apr 2018

Vieitez Irene, Souto-Rodriguez Olga, Fernandez-Mosquera Lorena, San Millan Beatriz, Teijeira Susana, Fernandez-Martin Julian, Martinez-Sanchez Felisa, Aldamiz-Echevarria Luis Jose, Lopez-Rodriguez Monica, Navarro Carmen, Ortolano Saida

Abstract excerpt

BACKGROUND: Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants of unclear diagnostic interpretation, usually identified in screening studies. We performed an observational study...

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Identifiers

PMID: 29631605
DOI: 10.1186/s13023-018-0792-8
PMCID: PMC5891901

Genes

GLA

Variants

Provenance

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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