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Disease-associated marked hyperalphalipoproteinemia.
Hirano KI, Nagasaka H, Kobayashi K, Yamaguchi S, Suzuki A, Toda T, Doyu M. Hirano KI, et al. Mol Genet Metab Rep. 2014 Jun 30;1:264-268. doi: 10.1016/j.ymgmr.2014.06.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896098 Free PMC article.
Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis.
Nagasaka H, Chiba H, Hui SP, Takikawa H, Miida T, Takayanagi M, Yorifuji T, Hasegawa M, Ota A, Hirano K, Kikuchi H, Tsukahara H, Kobayashi K. Nagasaka H, et al. J Pediatr Gastroenterol Nutr. 2007 Jul;45(1):96-105. doi: 10.1097/MPG.0b013e3180331df9. J Pediatr Gastroenterol Nutr. 2007. PMID: 17592371
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. 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
193 results