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Long-term outcome and intervention of urea cycle disorders in Japan.
Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: nakamura k. J Inherit Metab Dis. 2012 Sep;35(5):777-85. doi: 10.1007/s10545-011-9427-0. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167275
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Among authors: nakamura k. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117
Newborn screening for Fabry disease in the western region of Japan.
Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F, Hirose S, Nakamura K. Sawada T, et al. Among authors: nakamura k. Mol Genet Metab Rep. 2020 Jan 11;22:100562. doi: 10.1016/j.ymgmr.2019.100562. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31956509 Free PMC article.
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
Lee T, Yoshii K, Yoshida S, Suga T, Nakamura K, Sasai H, Murayama K, Kobayashi H, Hasegawa Y, Takeshima Y. Lee T, et al. Among authors: nakamura k. Clin Chim Acta. 2020 Nov;510:633-637. doi: 10.1016/j.cca.2020.08.027. Epub 2020 Aug 20. Clin Chim Acta. 2020. PMID: 32828733
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