Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, KimitoshiLanguage:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/s10038-019-0603-7
Date:
May, 2019
File:
PDF, 1.32 MB
english, 2019