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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: mitsubuchi h. 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.
Poly- and perfluoroalkyl substances in maternal serum: Method development and application in Pilot Study of the Japan Environment and Children's Study.
Nakayama SF, Isobe T, Iwai-Shimada M, Kobayashi Y, Nishihama Y, Taniguchi Y, Sekiyama M, Michikawa T, Yamazaki S, Nitta H, Oda M, Mitsubuchi H, Sanefuji M, Ohga S, Mise N, Ikegami A, Suga R, Shimono M. Nakayama SF, et al. Among authors: mitsubuchi h. J Chromatogr A. 2020 May 10;1618:460933. doi: 10.1016/j.chroma.2020.460933. Epub 2020 Jan 28. J Chromatogr A. 2020. PMID: 32035665 Free article.
Clinical features and management of organic acidemias in Japan.
Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: mitsubuchi h. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294
Diagnosis and treatment of urea cycle disorder in Japan.
Nakamura K, Kido J, Mitsubuchi H, Endo F. Nakamura K, et al. Among authors: mitsubuchi h. Pediatr Int. 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439. Pediatr Int. 2014. PMID: 25039902 Review.
97 results