Assessment of Spinal Muscular Atrophy<i> </i>Carrier Status by Determining <i>SMN1</i> Copy Number Using Dried Blood Spots

Tekijä Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara
Julkaistu 2020-05-01

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn...

Tekijä Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
Julkaistu 2018-09-01