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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 T, Kodama A, Aoyanagi N, Tsukino R, Uemura S, Song XQ, Watanebe H, Kuhara T, Matsumoto I, Orii T, Kondo N. Fukao T, et al. Among authors: watanebe h. Clin Genet. 1996 Oct;50(4):263-6. doi: 10.1111/j.1399-0004.1996.tb02641.x. Clin Genet. 1996. PMID: 9001814