The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body’s cell types and fluids. Patients with rare genetic...

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Detalles Bibliográficos
Autores principales: Moiseev, Sergey, Tao, Ekaterina, Moiseev, Alexey, Bulanov, Nikolay, Filatova, Ekaterina, Fomin, Victor, Germain, Dominique P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498688/
https://www.ncbi.nlm.nih.gov/pubmed/36140787
http://dx.doi.org/10.3390/genes13091619

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498688/
https://www.ncbi.nlm.nih.gov/pubmed/36140787
http://dx.doi.org/10.3390/genes13091619

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