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Page 1
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: yoshino m. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362
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: yoshino m. 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
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: yoshino m. 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
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G. Shoji Y, et al. Among authors: yoshino m. Hum Mutat. 2002 Nov;20(5):375-81. doi: 10.1002/humu.10140. Hum Mutat. 2002. PMID: 12402335
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: yoshino m. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP, Yoshino M. Numata S, et al. Among authors: yoshino m. J Hum Genet. 2010 Jan;55(1):18-22. doi: 10.1038/jhg.2009.113. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893582
944 results