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Pyridoxine responsive and unresponsive homocystinuria.
Kraus JP, Kozich V. Kraus JP, et al. J Nutr Sci Vitaminol (Tokyo). 1992;Spec No:589-92. doi: 10.3177/jnsv.38.special_589. J Nutr Sci Vitaminol (Tokyo). 1992. PMID: 1297819 No abstract available.
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Overdier KH, Collard R, Brodsky GL, Meltesen L, Crnic LS, Allen RH, Stabler SP, Elleder M, Rozen R, Patterson D, Kraus JP. Maclean KN, et al. Among authors: kraus jp, kraus e. Mol Genet Metab. 2010 Oct-Nov;101(2-3):153-62. doi: 10.1016/j.ymgme.2010.06.010. Epub 2010 Jun 23. Mol Genet Metab. 2010. PMID: 20638879 Free PMC article.
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Crnic LS, Allen RH, Stabler SP, Elleder M, Kraus JP. Maclean KN, et al. Among authors: kraus jp, kraus e. Mol Genet Metab. 2010 Oct-Nov;101(2-3):163-71. doi: 10.1016/j.ymgme.2010.06.007. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20638882 Free PMC article.
166 results