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Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium. Inoue H, et al. Among authors: shigematsu y. J Clin Endocrinol Metab. 2011 Feb;96(2):E373-8. doi: 10.1210/jc.2010-1570. Epub 2010 Nov 17. J Clin Endocrinol Metab. 2011. PMID: 21084395
Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium. Inoue H, et al. Among authors: shigematsu y. Clin Endocrinol (Oxf). 2011 Feb;74(2):223-33. doi: 10.1111/j.1365-2265.2010.03911.x. Clin Endocrinol (Oxf). 2011. PMID: 21044116
Inborn errors of ketone body utilization.
Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T. Hori T, et al. Among authors: shigematsu y. Pediatr Int. 2015;57(1):41-8. doi: 10.1111/ped.12585. Pediatr Int. 2015. PMID: 25559898 Review.
A case of female pseudohermaphroditism caused by aromatase deficiency.
Nagasaki K, Horikawa R, Fujisawa K, Hata I, Shigematsu Y, Tanaka T. Nagasaki K, et al. Among authors: shigematsu y. Clin Pediatr Endocrinol. 2004;13(1):59-64. doi: 10.1297/cpe.13.59. Epub 2004 Jul 7. Clin Pediatr Endocrinol. 2004. PMID: 24790299 Free PMC 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: shigematsu y. 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
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: shigematsu y. 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
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: shigematsu y. 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 novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: shigematsu y. Mol Genet Metab. 2009 Feb;96(2):77-9. doi: 10.1016/j.ymgme.2008.10.012. Epub 2008 Dec 6. Mol Genet Metab. 2009. PMID: 19064330
558 results