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个人简介
Seiji Yamaguchi, M.D. Professor, Department of Pediatrics, Shimane University School of Medicine Director, Japanese Society for Mass Screening Education and Professional Experience 1975 Degree of M.D., Graduate from Gifu University School of Medicine 1978 Staff doctor, NICU in Tokyo Metropolitan Hospital 1981 Assistant professor, Department of Pediatrics Gifu University Hospital 1993 Professor, Department of Pediatrics, Shimane Medical University 2003 Professor, Department of Pediatrics, Shimane University Sch. Of Med. 2009 Director of Japanese Society for Mass Screening Carriers of Education and Training 1984 Visiting Researcher, Enzyme Research Center, Tokushima University, Japan (Prof. Katunuma) 1986 Visiting Researcher, Department of Biochemistry, Shinshu University (Prof. T. Hashimoto) 1992 Visiting Scientist, Department of Genetics, Yale University, USA (Prof. K. Tanaka) Research Field 1) Newborn mass screening with mass spectrometry (MS/MS and GC/MS) 2) Clinical, biochemical, and molecular studies of organic and fatty acid metabolic disorders, including mainly VLCAD deficiency, TFP deficiency, MCAD deficiency, and glutaric acidemia type I (GA1) and type II (GA2) Main Achievements in the Research 1) First report of defective protein in B-ketothiolase deficiency (1988) 2) First report of very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency (1993) 3) First report of ETF B-subunit deficiency in glutaric acidemia type II (1992)“ 4) Development of a personal computer-based program of automated metabolic profiling of GC/MS data and diagnosis for the detection of organic acidemias (1999). 5) Development of a novel treatment with bezafibrate for fatty acid disorders (2012) Award 1) Encouraging prize from JSIMD “Study of beta-ketothiolase deficiency” (1990) 2) JSIMD Award “Study of Inborn Metabolic Disorders of Organic and Fatty acids” (2004) 3) JSBMS Award “Study of organic and fatty acid disorders using mass spectrometry” (2012) *JSIMD (Japanese Soc. of Inborn Metab. Disease; JSBMS=Japanese Soc. of Biomed. Mass Spectrometry.
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Takanari Hattori,Yoshitomo Notsu, Misa Tanaka, Miki Matsui,Tetsuo Iida,Jun Watanabe,Yoshimitsu Osawa,Seiji Yamaguchi,Shozo Yano,Takeshi Taketani,Hironori Kobayashi
Tomonori Hirashima,Tsuyoshi Arai,Heita Kitajima,Yoshitaka Tamura, Tomoki Yamada,Shoji Hashimoto,Hiroshi Morishita,Seijiro Minamoto, Kayoko Kawashima,Yozo Kashiwa,Makoto Kameda,Tohru Takeshita,
Taigo Kato,Akira Nagahara,Norihiko Kawamura,Wataru Nakata,Tetsuji Soda, Kyosuke Matsuzaki,Koji Hatano,Atsunari Kawashima,Takeshi Ujike,Kensaku Nishimura,Shingo Takada, Masao Tsujihata,
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