Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 7...

Descripción completa

Detalles Bibliográficos
Autores principales: Čerkauskaitė, Agnė, Čerkauskienė, Rimantė, Miglinas, Marius, Laurinavičius, Arvydas, Ding, Can, Rolfs, Arndt, Vencevičienė, Lina, Barysienė, Jūratė, Kazėnaitė, Edita, Sadauskienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571633/
https://www.ncbi.nlm.nih.gov/pubmed/31067829
http://dx.doi.org/10.3390/medicina55050122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571633/
https://www.ncbi.nlm.nih.gov/pubmed/31067829
http://dx.doi.org/10.3390/medicina55050122

Ejemplares similares