大浦敏博 (Toshihiro Ohura) - マイポータル

基本情報

所属: 旧所属東北大学大学院医学系研究科医科学専攻准教授

J-GLOBAL ID: 200901050020812457
researchmap会員ID: 1000004241

研究分野

ライフサイエンス / 胎児医学、小児成育学 /

委員歴

MISC

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

Mitsugu Uematsu, Osamu Sakamoto, Noriko Sugawara, Naonori Kumagai, Tetsuji Morimoto, Seiji Yamaguchi, Yuki Hasegawa, Hironori Kobayashi, Kenji Ihara, Makoto Yoshino …

JOURNAL OF HUMAN GENETICS 52(12) 1040-1043 2007年12月
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

T. Ohura, K. Kobayashi, Y. Tazawa, D. Abukawa, O. Sakamoto, S. Tsuchiya, T. Saheki

JOURNAL OF INHERITED METABOLIC DISEASE 30(2) 139-144 2007年4月
Diversity of cystathionline beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T > C: A possible role for gene conversion

Petr Vyletal, Jitka Sokolova, David N. Cooper, Jan P. Kraus, Michael Krawczak, Guglielmina Pepe, Olga Rickards, Hans G. Koch, Michael Linnebank, Leo A. J. Kluijtmans …

HUMAN MUTATION 28(3) 255-264 2007年3月
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia

Osamu Sakamoto, Toshihiro Ohura, Yoichi Matsubara, Masaki Takayanagi, Shigeru Tsuchiya

JOURNAL OF HUMAN GENETICS 52(1) 48-55 2007年1月
Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Daisuke Tokuhara, Mikio Iijima, Akiko Tamamori, Toshihiro Ohura, Junji Takaya, Shunichi Maisawa, Keiko Kobayashi, Takeyorl Saheki, Tsunekazu Yamano, Yoshiyuki Okano

MOLECULAR GENETICS AND METABOLISM 90(1) 30-36 2007年1月
Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Daisuke Tokuhara, Mikio Iijima, Akiko Tamamori, Toshihiro Ohura, Junji Takaya, Shunichi Maisawa, Keiko Kobayashi, Takeyorl Saheki, Tsunekazu Yamano, Yoshiyuki Okano

MOLECULAR GENETICS AND METABOLISM 90(1) 30-36 2007年1月
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia

Osamu Sakamoto, Toshihiro Ohura, Yoichi Matsubara, Masaki Takayanagi, Shigeru Tsuchiya

Journal of Human Genetics 52(1) 48-55 2007年1月
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations

Mitsugu Uematsu, Osamu Sakamoto, Toshiyuki Nishio, Toshihiro Ohura, Tadashi Matsuda, Tetsuji Inagaki, Takaaki Abe, Kunihiro Okamura, Yoshiaki Kondo, Shigeru Tsuchiya

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 140A(21) 2355-2360 2006年11月
Rapid diagnosis of glycine encephalopathy by C-13-glycine breath test

S Kure, SH Korman, J Kanno, A Narisawa, M Kubota, T Takayanagi, M Takayanagi, T Saito, A Matsui, F Kamada …

ANNALS OF NEUROLOGY 59(5) 862-867 2006年5月
Expression study of mutant eystathionine beta-synthase found in Japanese patients with homocystinuria

F Katsushima, J Oliveriusova, O Sakamoto, T Ohura, Y Kondo, K Iinuma, E Kraus, R Stouracova, JP Kraus

MOLECULAR GENETICS AND METABOLISM 87(4) 323-328 2006年4月
Renal transplantation in a 14-year-old girl with vitamin B-12-responsive cblA-type methylmalonic acidaemia

D Coman, J Huang, S McTaggart, O Sakamoto, T Ohura, J McGill, J Burke

PEDIATRIC NEPHROLOGY 21(2) 270-273 2006年2月
An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis

O Sakamoto, D Abukawa, J Takeyama, N Arai, M Nagano, H Hattori, T Egashira, N Sakai, S Yamashita, K Iinuma …

EUROPEAN JOURNAL OF PEDIATRICS 165(1) 68-70 2006年1月
Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: Report of a case

N Kawagishi, K Satoh, Y Enomoto, Y Akamatsu, S Sekiguchi, A Satoh, K Fujimori, Y Takasago, T Ito, T Ohura …

SURGERY TODAY 35(12) 1087-1091 2005年12月
Acid sphingomyelinase: Relation of (93)lysine residue on the ratio of intracellular to secreted enzyme activity

Takahashi, I, T Takahashi, T Mikami, M Komatsu, T Ohura, EH Schuchman, G Takada

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE 206(4) 333-340 2005年8月
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic, study

M Munakata, O Sakamoto, T Kitamura, M Ishitobi, H Yokoyama, K Haginoya, N Togashi, H Tamura, S Higano, S Takahashi …

BRAIN & DEVELOPMENT 27(4) 297-300 2005年6月
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency

Y Tazawa, D Abukawa, O Sakamoto, Nagata, I, J Murakami, T Iizuka, M Okamoto, A Kimura, T Kurosawa, K Iinuma …

HEPATOLOGY RESEARCH 31(3) 168-171 2005年3月
Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood

M Hachisu, Y Oda, M Goto, K Kobayashi, T Saheki, T Ohura, S Noma, S Kitanaka

EUROPEAN JOURNAL OF PEDIATRICS 164(2) 109-110 2005年2月
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients

Y Tazawa, K Kobayashi, D Abukawa, Nagata, I, S Maisawa, R Sumazaki, T Iizuka, Y Hosoda, M Okamoto, J Murakami …

MOLECULAR GENETICS AND METABOLISM 83(3) 213-219 2004年11月
Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency

A Tamamori, A Fujimoto, Y Okano, K Kobayashi, T Saheki, Y Tagami, H Takei, Y Shigematsu, Hata, I, H Ozaki …

PEDIATRIC RESEARCH 56(4) 608-614 2004年10月
Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder

R Kleta, E Romeo, Z Ristic, T Ohura, C Stuart, M Arcos-Burgos, MH Dave, CA Wagner, SRM Camargo, S Inoue …

NATURE GENETICS 36(9) 999-1002 2004年9月

大浦敏博

基本情報

研究分野

委員歴

MISC

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所属学協会

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