The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. The accumulation of GL-3 may lead to life-threatening complicat...

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Detalles Bibliográficos
Autores principales: Muto, Reiko, Inagaki, Koji, Kato, Noritoshi, Maruyama, Shoichi, Akahori, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259301/
https://www.ncbi.nlm.nih.gov/pubmed/34803097
http://dx.doi.org/10.2169/internalmedicine.8213-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259301/
https://www.ncbi.nlm.nih.gov/pubmed/34803097
http://dx.doi.org/10.2169/internalmedicine.8213-21

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