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A Japanese case of β-ureidopropionase deficiency with dysmorphic features.
Akiyama T, Shibata T, Yoshinaga H, Kuhara T, Nakajima Y, Kato T, Maeda Y, Ohse M, Oka M, Kageyama M, Kobayashi K. Akiyama T, et al. Among authors: maeda y. Brain Dev. 2017 Jan;39(1):58-61. doi: 10.1016/j.braindev.2016.08.001. Epub 2016 Aug 21. Brain Dev. 2017. PMID: 27553092
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.
Maeda Y, Ito T, Ohmi H, Yokoi K, Nakajima Y, Ueta A, Kurono Y, Togari H, Sugiyama N. Maeda Y, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):154-9. doi: 10.1016/j.jchromb.2007.11.037. Epub 2007 Dec 4. J Chromatogr B Analyt Technol Biomed Life Sci. 2008. PMID: 18088573
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: maeda 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
4,621 results