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469 results

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Page 1
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Kagami M, et al. Among authors: yorifuji t. Genet Med. 2017 Dec;19(12):1356-1366. doi: 10.1038/gim.2017.53. Epub 2017 May 31. Genet Med. 2017. PMID: 28640239 Free PMC article.
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: yorifuji t. 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
Living-donor liver transplantation for propionic acidemia.
Kasahara M, Sakamoto S, Kanazawa H, Karaki C, Kakiuchi T, Shigeta T, Fukuda A, Kosaki R, Nakazawa A, Ishige M, Nagao M, Shigematsu Y, Yorifuji T, Naiki Y, Horikawa R. Kasahara M, et al. Among authors: yorifuji t. Pediatr Transplant. 2012 May;16(3):230-4. doi: 10.1111/j.1399-3046.2011.01607.x. Epub 2011 Dec 7. Pediatr Transplant. 2012. PMID: 22151065
Long-term outcome and intervention of urea cycle disorders in Japan.
Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: yorifuji t. J Inherit Metab Dis. 2012 Sep;35(5):777-85. doi: 10.1007/s10545-011-9427-0. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167275
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S. Isojima T, et al. Among authors: yorifuji t. J Bone Miner Res. 2014 Apr;29(4):992-8. doi: 10.1002/jbmr.2091. J Bone Miner Res. 2014. PMID: 23996431 Free article.
Clinical features and management of organic acidemias in Japan.
Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: yorifuji t. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294
469 results