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Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T. Kurokawa K, et al. Among authors: yorifuji t. J Hum Genet. 2007;52(4):349-354. doi: 10.1007/s10038-007-0122-9. Epub 2007 Feb 20. J Hum Genet. 2007. PMID: 17310273
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Nagasaka H, Komatsu H, Inui A, Nakacho M, Morioka I, Tsukahara H, Kaji S, Hirayama S, Miida T, Kondou H, Ihara K, Yagi M, Kizaki Z, Bessho K, Kodama T, Iijima K, Saheki T, Yorifuji T, Honda A. Nagasaka H, et al. Among authors: yorifuji t. Mol Genet Metab. 2017 Mar;120(3):207-212. doi: 10.1016/j.ymgme.2016.12.011. Epub 2016 Dec 24. Mol Genet Metab. 2017. PMID: 28041819
488 results