A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in...

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Detalles Bibliográficos
Autores principales: Fukuhara, Yasuyuki, Fuji, Naoko, Yamazaki, Narutoshi, Hirakiyama, Asami, Kamioka, Tetsuharu, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Okuyama, Torayuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
https://www.ncbi.nlm.nih.gov/pubmed/29124014
http://dx.doi.org/10.1016/j.ymgmr.2017.10.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
https://www.ncbi.nlm.nih.gov/pubmed/29124014
http://dx.doi.org/10.1016/j.ymgmr.2017.10.009

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