Research group of Prof. Kure published an article about galactosemia on the journal “Genetics in Medicine”
Professor Shigeo Kure and his colleagues published an article about galactosemia on the journal “Genetics in Medicine”. They found out that biallelic GALM pathogenic variants cause galactosemia, suggesting the existence of “type IV” galactosemia.
Please take a look at the article for more details.
Article information
Title: Biallelic GALM pathogenic variants cause a novel type of galactosemia
Published journal: Genetics in Medicine
Authors: Yoichi Wada*, Atsuo Kikuchi*,†, Natsuko Arai-Ichinoi*, Osamu Sakamoto*, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, and Shigeo Kure
*: co-first authors
†: corresponding author
Published date: October 19th, 2018
DOI: 10.1038/s41436-018-0340-x
Related link
Tohoku University School of Medicine, Department of Pediatrics