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Living donor liver transplantation for glycogen storage disease type Ib.
Kasahara M, Horikawa R, Sakamoto S, Shigeta T, Tanaka H, Fukuda A, Abe K, Yoshii K, Naiki Y, Kosaki R, Nakagawa A. Kasahara M, et al. Among authors: kosaki r. Liver Transpl. 2009 Dec;15(12):1867-71. doi: 10.1002/lt.21929. Liver Transpl. 2009. PMID: 19938129 Free article.
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: kosaki r. 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
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: kosaki r. 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.
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: kosaki r. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Prenatal diagnosis of fetal skeletal dysplasia with 3D CT.
Miyazaki O, Nishimura G, Sago H, Horiuchi T, Hayashi S, Kosaki R. Miyazaki O, et al. Among authors: kosaki r. Pediatr Radiol. 2012 Jul;42(7):842-52. doi: 10.1007/s00247-012-2381-7. Epub 2012 Apr 25. Pediatr Radiol. 2012. PMID: 22532233
174 results