Discordant renal progression of Fabry disease in male monozygotic twins: a case report

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A (α-GAL). Clinical phenotypes tend to vary in monozygotic female twins because mutations are located on the X-chromosome, whereas similar phenotypes are found...

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Detalles Bibliográficos
Autores principales: Lee, Do-Yun, Jeong, Jun-Yeong, Lee, Seung-Eun, Lee, Jae-Hun, Moon, Ju-Young, Jung, Su Woong, Lee, Sang-Ho, Kim, Yang Gyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300636/
https://www.ncbi.nlm.nih.gov/pubmed/37388940
http://dx.doi.org/10.3389/fgene.2023.1150822

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300636/
https://www.ncbi.nlm.nih.gov/pubmed/37388940
http://dx.doi.org/10.3389/fgene.2023.1150822

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