Current status of newborn screening for Pompe disease in Japan

BACKGROUND: Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We conducted newborn screening (NBS) for Pompe disease in Japan...

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Detalles Bibliográficos
Autores principales: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Momosaki, Ken, Yoshida, Shinichiro, Kojima-Ishii, Kanako, Inoue, Takahito, Matsumoto, Shirou, Endo, Fumio, Ohga, Shouichi, Hirose, Shinichi, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684119/
https://www.ncbi.nlm.nih.gov/pubmed/34922579
http://dx.doi.org/10.1186/s13023-021-02146-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684119/
https://www.ncbi.nlm.nih.gov/pubmed/34922579
http://dx.doi.org/10.1186/s13023-021-02146-z

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