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Page 1
Pathological characterization of pachydermia in pachydermoperiostosis.
Tanese K, Niizeki H, Seki A, Otsuka A, Kabashima K, Kosaki K, Kuwahara M, Miyakawa S, Miyasaka M, Matsuoka K, Okuyama T, Shiohama A, Sasaki T, Kudoh J, Amagai M, Ishiko A. Tanese K, et al. Among authors: okuyama t. J Dermatol. 2015 Jul;42(7):710-4. doi: 10.1111/1346-8138.12869. Epub 2015 May 11. J Dermatol. 2015. PMID: 25964088 Free PMC article.
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.
Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A, Kabashima K, Otsuka A, Ishiko A, Tanese K, Miyakawa S, Sakabe J, Kuwahara M, Amagai M, Okano H, Suematsu M, Kudoh J. Sasaki T, et al. Among authors: okuyama t. J Dermatol Sci. 2012 Oct;68(1):36-44. doi: 10.1016/j.jdermsci.2012.07.008. Epub 2012 Jul 27. J Dermatol Sci. 2012. PMID: 22906430
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Among authors: okuyama t. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.
Newborn screening for Pompe disease in Japan.
Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: okuyama t. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years.
Kobayashi H, Ariga M, Sato Y, Fujiwara M, Fukasawa N, Fukuda T, Takahashi H, Ikegami M, Kosuga M, Okuyama T, Eto Y, Ida H. Kobayashi H, et al. Among authors: okuyama t. JIMD Rep. 2018;41:101-107. doi: 10.1007/8904_2018_106. Epub 2018 Apr 29. JIMD Rep. 2018. PMID: 29705972 Free PMC article.
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Among authors: okuyama t. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117
1,374 results