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The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.
Fukao T, Zhang GX, Sakura N, Kubo T, Yamaga H, Hazama A, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N. Fukao T, et al. Among authors: kondo n, kondo m. J Inherit Metab Dis. 2003;26(5):423-31. doi: 10.1023/a:1025117226051. J Inherit Metab Dis. 2003. PMID: 14518824
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: kondo n. Clin Genet. 1996 Oct;50(4):263-6. doi: 10.1111/j.1399-0004.1996.tb02641.x. Clin Genet. 1996. PMID: 9001814
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T. Fukao T, et al. Among authors: kondo n. Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9090533 No abstract available.
2,228 results