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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. Clin Genet. 1996 Oct;50(4):263-6. doi: 10.1111/j.1399-0004.1996.tb02641.x. Clin Genet. 1996. PMID: 9001814
[Cytosolic acetoacetyl-CoA thiolase deficiency].
Song XQ, Fukao T. Song XQ, et al. Among authors: fukao t. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):359-61. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590069 Review. Japanese. No abstract available.
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