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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: fukushi d. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Yamada Y, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: fukushi d. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):218-22. doi: 10.1080/15257770.2013.865743. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940672
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Yamada K, Aiba K, Kitaura Y, Kondo Y, Nomura N, Nakamura Y, Fukushi D, Murayama K, Shimomura Y, Pitt J, Yamaguchi S, Yokochi K, Wakamatsu N. Yamada K, et al. Among authors: fukushi d. J Med Genet. 2015 Oct;52(10):691-8. doi: 10.1136/jmedgenet-2015-103231. Epub 2015 Aug 6. J Med Genet. 2015. PMID: 26251176
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Yamada K, Naiki M, Hoshino S, Kitaura Y, Kondo Y, Nomura N, Kimura R, Fukushi D, Yamada Y, Shimozawa N, Yamaguchi S, Shimomura Y, Miura K, Wakamatsu N. Yamada K, et al. Among authors: fukushi d. Mol Genet Metab Rep. 2014 Oct 16;1:455-460. doi: 10.1016/j.ymgmr.2014.10.003. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896122 Free PMC article.
46 results