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Article

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

Medicina clinica - 6 Jun 2014

San Román-Monserrat Irene, Moreno-Flores Victoria, López-Cuenca David, Rodríguez-González-Herrero Elena, Guillén-Navarro Encarna, Rodríguez-González-Herrero Beatriz, Alegría-Fernández Marisol, Poza-Cisneros Gabriela, Piñero-Fernández Juan A, Sornichero-Martínez Javier, Gimeno-Blanes Juan R

Abstract excerpt

BACKGROUND AND OBJECTIVE: Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. PATIENTS AND METHODS: Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. RESULTS: 4 males and 13 heterozygous-females displayed the...

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Source

Identifiers

PMID: 24679964
DOI: 10.1016/j.medcli.2014.01.032

Genes

GLA
FOS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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