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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
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
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.
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, van Kuilenburg ABP. Nakajima Y, et al. Among authors: watanabe y. Mol Genet Metab. 2017 Dec;122(4):216-222. doi: 10.1016/j.ymgme.2017.10.003. Epub 2017 Oct 12. Mol Genet Metab. 2017. PMID: 29054612
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
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.
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
Gotoh K, Nakajima Y, Tajima G, Watanabe Y, Hotta Y, Kataoka T, Kawade Y, Sugiyama N, Ito T, Kimura K, Maeda Y. Gotoh K, et al. Among authors: watanabe y. J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Mar 1;1046:195-199. doi: 10.1016/j.jchromb.2017.02.003. Epub 2017 Feb 6. J Chromatogr B Analyt Technol Biomed Life Sci. 2017. PMID: 28189105
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