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pro vyhledávání: '"Noriyuki Aoyanagi"'
Autor:
Tadao Orii, Toshiyuki Fukao, Hiroh Watanebe, Tomiko Kuhara, Xiang-Qian Song, Noriyuki Aoyanagi, Ryuichi Tsukino, Naomi Kondo, Shigeru Uemura, Akihiko Kodama, Isamu Matsumoto
Publikováno v:
Clinical Genetics. 50:263-266
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mild forms of this disorder. They did not excrete tiglylglyc