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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

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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
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
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