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Page 1
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: watanabe y. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T. Narumi S, et al. Among authors: watanabe y. Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177. Am J Med Genet A. 2010. PMID: 20034086
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB. Nakajima Y, et al. Among authors: watanabe y. J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. J Inherit Metab Dis. 2014. PMID: 24526388 Free PMC article.
Diabetes mellitus exacerbates citrin deficiency via glucose toxicity.
Watanabe Y, Numakura C, Tahara T, Fukui K, Torimura T, Hiromatsu Y, Tomotsune K, Yamakawa M, Hayasaka K. Watanabe Y, et al. Diabetes Res Clin Pract. 2020 Jun;164:108159. doi: 10.1016/j.diabres.2020.108159. Epub 2020 Apr 23. Diabetes Res Clin Pract. 2020. PMID: 32335094
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
Ago Y, Otsuka H, Sasai H, Abdelkreem E, Nakama M, Aoyama Y, Matsumoto H, Fujiki R, Ohara O, Akiyama K, Fukui K, Watanabe Y, Nakajima Y, Ohnishi H, Ito T, Fukao T. Ago Y, et al. Among authors: watanabe y. Exp Ther Med. 2020 Nov;20(5):39. doi: 10.3892/etm.2020.9166. Epub 2020 Sep 1. Exp Ther Med. 2020. PMID: 32952630 Free PMC article.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Kido J, Matsumoto S, Häberle J, Nakajima Y, Wada Y, Mochizuki N, Murayama K, Lee T, Mochizuki H, Watanabe Y, Horikawa R, Kasahara M, Nakamura K. Kido J, et al. Among authors: watanabe y. J Inherit Metab Dis. 2021 Jul;44(4):826-837. doi: 10.1002/jimd.12384. Epub 2021 Apr 18. J Inherit Metab Dis. 2021. PMID: 33840128
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