Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Akihito Ueta"'
Autor:
Hajime Togari, Tetsuya Ito, Yoshihiro Okamoto, Akihito Ueta, Yuki Jose, Mikio Nishida, Yumiko Okubo, Satoshi Sumi, Akiko Ninomiya
Publikováno v:
Biochemical Genetics. 45:713-724
The single-strand conformation polymorphism (SSCP) procedure has been applied in routine testing for hereditary diseases. Temperature, running buffer, gel composition, and fragment length can influence its sensitivity. Mutation detection in the clini
Autor:
Hajime Togari, Akihito Ueta, Kyoko Yokoi, Satoshi Sumi, Naruji Sugiyama, Tetsuya Ito, Atsuko Suzuki, Yukihisa Kurono, Yasuhiro Maeda
Publikováno v:
Rapid Communications in Mass Spectrometry. 21:799-806
Tandem mass spectrometry (MS/MS) has become a prominent method for screening newborns for diseases such as organic acidemia and fatty acid oxidation defects, although current methods cannot separate acylcarnitine isomers. Accurate determination of di
Autor:
Takayasu Nomura, Satoshi Suzuki, Yukihisa Kurono, Ineko Kato, Akihito Ueta, Hajime Togari, Tetsuya Ito, Norihisa Koyama, Yasuhiro Maeda, Kyoko Yokoi, Yoko Nakajima, Naruji Sugiyama
Publikováno v:
The Tohoku Journal of Experimental Medicine. 213:351-359
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is rare among Asian individuals, and the clinical course and biochemical findings remain unclear. We report herein a 3-year-old Japanese girl with MCADD. The diagnosis was suggested by acylcarnit
Publikováno v:
The Tohoku Journal of Experimental Medicine. 208:57-63
Adenosine is a physiologically active molecule produced locally in many sites of the body to regulate various cell functions. Measurement of levels of the factor in organs and biological fluids provides clues to its role and we reported an accurate q
Autor:
Hajime Togari, Akihito Ueta, Shinji Fujimoto, Yumiko Ohkubo, Tohru Maeda, Kantaro Mizuno, Daiju Yamazaki, Sachiko Yamaguchi, Naoki Ando, Satoshi Sumi, Yukihisa Kurono, Tetsuya Ito
Publikováno v:
Journal of Human Genetics. 51:118-123
CYP2C19 is a clinically important enzyme involved in the metabolism of therapeutic drugs such as (S)-mephenytoin, omeprazole, proguanil, and diazepam. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM) on
Autor:
Tetsuya Ito, Tohru Maeda, Hajime Togari, Shinsaku Hasegawa, Akihito Ueta, Yumiko Ohkubo, Satoshi Sumi, Anthony M. Marinaki, Yukihisa Kurono
Publikováno v:
Molecular Genetics and Metabolism. 85:271-279
Inosine triphosphate pyrophosphohydrolase (ITPase) is an enzyme that catalyzes the conversion of inosine triphosphate (ITP) to inosine monophosphate and pyrophosphate. In Caucasian populations it is reported that the frequency of cases showing decrea
Autor:
Satoshi Sumi, Mari Yamada, Hajime Togari, Akihito Ueta, Yumiko Ohkubo, Katsuko Ozawa, Tetsuya Ito
Publikováno v:
The Tohoku Journal of Experimental Medicine. 205:335-342
Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina. Here, we report a 37-year-old male with gyrate atrophy of the choroid and retina who has been
Autor:
Akihito Ueta, Yumiko Ohkubo, Satoshi Sumi, Hajime Togari, Tetsuya Ito, Satoru Ohba, Ineko Kato
Publikováno v:
Gout and Nucleic Acid Metabolism. 29:127-131
Publikováno v:
Gout and Nucleic Acid Metabolism. 27:101-105
Autor:
Hajime Togari, Akihito Ueta, Yoshiro Wada, Tetsuya Ito, Shinji Fujimoto, Naoki Hamajima, Kiyoshi Kidouchi, Satoshi Sumi, Kyoko Ban
Publikováno v:
Clinica Chimica Acta. 308:187-189