Newborn Screening for Pompe Disease

Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzy...

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Detalles Bibliográficos
Autores principales: Sawada, Takaaki, Kido, Jun, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423004/
https://www.ncbi.nlm.nih.gov/pubmed/33073027
http://dx.doi.org/10.3390/ijns6020031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423004/
https://www.ncbi.nlm.nih.gov/pubmed/33073027
http://dx.doi.org/10.3390/ijns6020031

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