Advances in Diagnosis and Management of Pompe Disease

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifests with a broad spectrum of disease severity, ranging from severe inf...

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Detalles Bibliográficos
Autor principal: Davison, James E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Review Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518093/
https://www.ncbi.nlm.nih.gov/pubmed/33554498
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2001.000002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518093/
https://www.ncbi.nlm.nih.gov/pubmed/33554498
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2001.000002

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