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Article

A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

Clinical biochemistry - 1 Jan 2015

Tuttolomondo Antonino, Duro Giovanni, Pecoraro Rosaria, Simonetta Irene, Miceli Salvatore, Colomba Paolo, Zizzo Carmela, Di Chiara Tiziana, Scaglione Rosario, Della Corte Vittoriano, Corpora Francesca, Pinto Antonio

Abstract excerpt

BACKGROUND: Anderson/Fabry disease expresses a wide range of clinical variability in patients that it is possible to explain referring to a genetic variability with numerous mutations described in the literature (more than 600). METHODS: We report some clinical cases of some members of a Sicilian family to express phenotypical variability of this disease in subjects with the same genetic mutation RESULTS: The...

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Identifiers

PMID: 25281798
DOI: 10.1016/j.clinbiochem.2014.09.018

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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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