Toshihiro Yasui Tatsuya Suzuki Fujio Hara Shunsuke Watanabe Naoko Uga Atsuki Naoe Tetsushi Yoshikawa Tetsuya Ito Yoko Nakajima Hiroki Miura Atsushi Sugioka Yutaro Kato Takamasa Tokoro Yoshinao Tanahashi Mureo Kasahara Akinari Fukuda Hiroki Kurahashi
PEDIATRIC TRANSPLANTATION 20(5) 707-710 2016年8月 [査読有り]
MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most p...
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医学部