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Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
Fukao, Toshiyuki; Kodama, Akihiko; Aoyanagi, Noriyuki; Tsukino, Ryu-ichi; Uemura, Shigeru; Song, Xiang-Qian; Watanebe, Hiroh; Kuhara, Tomiko; Matsumoto, I.; Orii, Tadao; Kondo, Naomi
Follow Clinical Genetics , Volume 50 (4) Wiley – Oct 1, 1996
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- Title
- Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
- Author(s)
- Fukao, Toshiyuki; Kodama, Akihiko; Aoyanagi, Noriyuki; Tsukino, Ryu-ichi; Uemura, Shigeru; Song, Xiang-Qian; Watanebe, Hiroh; Kuhara, Tomiko; Matsumoto, I.; Orii, Tadao; Kondo, Naomi
- Journal
- Follow Clinical Genetics , Volume 50 (4) Wiley – Oct 1, 1996
- Publisher
- Blackwell Publishing Ltd
- Copyright
- 1996 Blackwell Munksgaard
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- D.O.I.
- 10.1111/j.1399-0004.1996.tb02641.x
- Publisher site
- Get PDF