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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Bibliografiske detaljer

Principais autores:	Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2018-03-01
Serier:	Molecular Genetics and Metabolism Reports
Fag:	Lysosomal disease Pompe disease Acid α-glucosidase Genotype-phenotype correlation
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2214426917301519
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