Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?

Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene...

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Detalles Bibliográficos
Autores principales: Aladağ, N, Ali Barman, H, Şipal, A, Akbulut, T, Özdemir, M, Ceylaner, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413883/
https://www.ncbi.nlm.nih.gov/pubmed/37576794
http://dx.doi.org/10.2478/bjmg-2023-0010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413883/
https://www.ncbi.nlm.nih.gov/pubmed/37576794
http://dx.doi.org/10.2478/bjmg-2023-0010

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