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Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.
Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T. Muraoka T, et al. Among authors: sugie h. Intern Med. 2011;50(24):2987-91. doi: 10.2169/internalmedicine.50.5563. Epub 2011 Dec 15. Intern Med. 2011. PMID: 22185990 Free article.
197 results