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11,674 results

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Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria.
Sanayama Y, Nagasaka H, Takayanagi M, Ohura T, Sakamoto O, Ito T, Ishige-Wada M, Usui H, Yoshino M, Ohtake A, Yorifuji T, Tsukahara H, Hirayama S, Miida T, Fukui M, Okano Y. Sanayama Y, et al. Among authors: ito t. Mol Genet Metab. 2011 Jul;103(3):220-5. doi: 10.1016/j.ymgme.2011.03.019. Epub 2011 Mar 29. Mol Genet Metab. 2011. PMID: 21514861
CD36 deficiency predisposing young children to fasting hypoglycemia.
Nagasaka H, Yorifuji T, Takatani T, Okano Y, Tsukahara H, Yanai H, Hirano K, Hui SP, Hirayama S, Ito T, Chiba H, Miida T. Nagasaka H, et al. Among authors: ito t. Metabolism. 2011 Jun;60(6):881-7. doi: 10.1016/j.metabol.2010.08.008. Epub 2010 Oct 13. Metabolism. 2011. PMID: 20947105
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening.
Nagasaka H, Tsukahara H, Takatani T, Sanayama Y, Takayanagi M, Ohura T, Sakamoto O, Ito T, Wada M, Yoshino M, Ohtake A, Yorifuji T, Hirayama S, Miida T, Fujimoto H, Mochizuki H, Hattori T, Okano Y. Nagasaka H, et al. Among authors: ito t. J Bone Miner Metab. 2011 Nov;29(6):737-43. doi: 10.1007/s00774-011-0276-6. Epub 2011 May 19. J Bone Miner Metab. 2011. PMID: 21594581
Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H. Shintaku H, et al. Among authors: ito t. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362
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: ito t. 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
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: ito t. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.
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