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No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant

Abstract Background Fabry disease (FD) is a rare X‐linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α‐galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues an...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Irene Capelli, Roberta Di Costanzo, Valeria Aiello, Sarah Lerario, Paola De Giovanni, Marcello Montevecchi, Davide Cerretani, Vincenzo Donadio, Gaetano La Manna, Renzo Mignani
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2024-06-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
Fabry disease
pathogenicity
variant
variant of unknown significant
Online-Zugang:https://doi.org/10.1002/mgg3.2390
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