Rchr
J-GLOBAL ID：200901079956171893
Update date: Sep. 01, 2020
Hayasaka Kiyoshi
ハヤサカ キヨシ | Hayasaka Kiyoshi
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Affiliation and department：
Yamagata University Faculty of Medicine, School of Medicine
About Yamagata University Faculty of Medicine, School of Medicine
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Detailed information
Job title：
Professor,Director
Research field (1)：
Fetal medicine/Pediatrics
Research keywords (2)：
小児科学
, Pediatrics
Research theme for competitive and other funds (8)：
1977 - 2014 先天代謝異常症の病態
1987 - 2007 The metabolic basis of hyperglycinemia
1999 - 先天性中枢性低換気症候群の病態
1999 - Pathogenesis of congenital central hypoventilation syndrome
1997 - 新生児黄疸の病態
1996 - neonatal hyperbilirubinemia
1993 - 遺伝性ニューロパシーの病態
1993 - Hereditary Neuropathy
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MISC (280)：
H. Saitsu, H. Hoshino, M. Kato, K. Nishiyama, I. Okada, Y. Yoneda, Y. Tsurusaki, H. Doi, N. Miyake, M. Kubota, et al. Paternal mosaicism of an STXBP1 mutation in OS. CLINICAL GENETICS. 2011. 80. 5. 484-488
Akiko Abe, Chikahiko Numakura, Kazuki Kijima, Makiko Hayashi, Taeko Hashimoto, Kiyoshi Hayasaka. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. JOURNAL OF HUMAN GENETICS. 2011. 56. 5. 364-368
Chikahiko Numakura, Daiki Abukawa, Toshiyuki Kimura, Saori Tanabe, Kiyoshi Hayasaka. A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1. PEDIATRICS INTERNATIONAL. 2011. 53. 1. 107-110
Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E. Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tetsuzo Tagawa, Shigeru Kimura, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. EPILEPSIA. 2010. 51. 12. 2397-2405
Akiko Abe, Kazuyuki Nakamura, Mitsuhiro Kato, Chikahiko Numakura, Tomomi Honma, Chizuru Seiwa, Emi Shirahata, Aiko Itoh, Yumiko Kishikawa, Kiyoshi Hayasaka. Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. JOURNAL OF HUMAN GENETICS. 2010. 55. 11. 771-773
ｍore...
Professional career (1)：
(BLANK)
Committee career (3)：
日本人類遺伝学会 評議員
日本先天代謝異常学会 理事
日本小児科学会 代議員
Awards (1)：
1989 - 日本医師会医学研究助成費
Association Membership(s) (5)：
The society for the study of inborn errors of metabolism
, 日本小児神経学会
, 日本人類遺伝学会
, 日本先天代謝異常学会
, 日本小児科学会
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