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...

Disgrifiad llawn

Manylion Llyfryddiaeth

Prif Awduron:	Irene Capelli, Roberta Di Costanzo, Valeria Aiello, Sarah Lerario, Paola De Giovanni, Marcello Montevecchi, Davide Cerretani, Vincenzo Donadio, Gaetano La Manna, Renzo Mignani
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Wiley 2024-06-01
Cyfres:	Molecular Genetics & Genomic Medicine
Pynciau:	Fabry disease pathogenicity variant variant of unknown significant
Mynediad Ar-lein:	https://doi.org/10.1002/mgg3.2390
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!