Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

BACKGROUND: In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD‐asso...

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Detalles Bibliográficos
Autores principales: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Matsumoto, Shirou, Takada, Fumio, Tsuboi, Kazuya, Ohtake, Akira, Endo, Fumio, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667298/
https://www.ncbi.nlm.nih.gov/pubmed/33016649
http://dx.doi.org/10.1002/mgg3.1502

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667298/
https://www.ncbi.nlm.nih.gov/pubmed/33016649
http://dx.doi.org/10.1002/mgg3.1502

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