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  • Research group of Prof. Kure published an article about galactosemia on the journal “Genetics in Medicine”
  • Research group of Prof. Kure published an article about galactosemia on the journal “Genetics in Medicine”

    Research: 2018/11/26


    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

    Japan Agency for Medical Research and Development (AMED), Practical Research Project for Rare / Intractable Diseases


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