Toshihiro Ohura

Profile Information

Affiliation: Associate Professor, Former Institution/Organization Tohoku University Graduate School of Medicine Department of Medical Sciences

J-GLOBAL ID: 200901050020812457
researchmap Member ID: 1000004241

Research Areas

Life sciences / Fetal medicine/Pediatrics /

Committee Memberships

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, Dec, 2007
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, Dec, 2007
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, Apr, 2007
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, Apr, 2007
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, Mar, 2007
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, Mar, 2007
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, Jan, 2007
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, Jan, 2007
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, Jan, 2007
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, Jan, 2007
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, Jan, 2007
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, Jan, 2007
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, Nov, 2006
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, Nov, 2006
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, Nov, 2006
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, Nov, 2006
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, May, 2006
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, May, 2006
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, Apr, 2006
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, Apr, 2006

Books and Other Publications

家庭医学大全

法研, 2004

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