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Food Preferences of Patients with Citrin Deficiency.
Okamoto M, Okano Y, Okano M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y. Okamoto M, et al. Among authors: watanabe y. Nutrients. 2021 Sep 6;13(9):3123. doi: 10.3390/nu13093123. Nutrients. 2021. PMID: 34579000 Free PMC article.
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
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
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
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T, Ito T, Hamazaki T, Inui A, Ishige M, Kagawa R, Sakai N, Watanabe Y, Kobayashi H, Wasaki Y, Taura J, Imamura Y, Tsukiuda T, Nakamura K. Fukuda T, et al. Among authors: watanabe y. J Inherit Metab Dis. 2023 Jul;46(4):618-633. doi: 10.1002/jimd.12610. Epub 2023 Jun 14. J Inherit Metab Dis. 2023. PMID: 37114839
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.
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