A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells

Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart. Patients with the severe type of the disease, infantile-onset Pompe disease (IOPD), show generalized muscle weakness a...

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Detalles Bibliográficos
Autores principales: Yoshida, Takeshi, Awaya, Tomonari, Jonouchi, Tatsuya, Kimura, Ryo, Kimura, Shigemi, Era, Takumi, Heike, Toshio, Sakurai, Hidetoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647434/
https://www.ncbi.nlm.nih.gov/pubmed/29044175
http://dx.doi.org/10.1038/s41598-017-14063-y

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