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Page 1
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: kobayashi k. 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
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.
Nagasaka H, Okano Y, Tsukahara H, Shigematsu Y, Momoi T, Yorifuji J, Miida T, Ohura T, Kobayashi K, Saheki T, Hirano K, Takayanagi M, Yorifuji T. Nagasaka H, et al. Among authors: kobayashi k. Mol Genet Metab. 2009 May;97(1):21-6. doi: 10.1016/j.ymgme.2009.01.009. Epub 2009 Jan 25. Mol Genet Metab. 2009. PMID: 19232506
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: kobayashi k. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I, Saheki T. Yamaguchi N, et al. Among authors: kobayashi k. Hum Mutat. 2002 Feb;19(2):122-30. doi: 10.1002/humu.10022. Hum Mutat. 2002. PMID: 11793471
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.
Kimura A, Kage M, Nagata I, Mushiake S, Ohura T, Tazawa Y, Maisawa S, Tomomasa T, Abukawa D, Okano Y, Sumazaki R, Takayanagi M, Tamamori A, Yorifuji T, Yamato Y, Maeda K, Matsushita M, Matsuishi T, Tanikawa K, Kobayashi K, Saheki T. Kimura A, et al. Among authors: kobayashi k. Hepatol Res. 2010 Apr;40(4):295-303. doi: 10.1111/j.1872-034X.2009.00594.x. Epub 2010 Jan 11. Hepatol Res. 2010. PMID: 20070398
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