Cargando…
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...
| Autor principal: | |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2020
|
| Materias: | |
| 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 |