2010 Fiscal Year Final Research Report
Development of useful methods to improve the accuracy in newborn screening by tandem mass spectrometry
| Project/Area Number |
20591218
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | University of Fukui |
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Principal Investigator |
SHIGEMATSU Yosuke University of Fukui, 医学部, 教授 (80162593)
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| Co-Investigator(Kenkyū-buntansha) |
HATA Ikue 福井大学, 医学部, 助教 (50251997)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 遺伝・先天異常学 / マススクリーニング |
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| Research Abstract |
In newborn screening using tandem mass spectrometry, in which more than 20 inherited metabolic diseases can be screened, screening markers were tested based on the patients'data, and new second-tier tests were developed to detect particular patients who need early diagnosis and quick therapy. In addition, a useful method to confirm the diagnosis of fatty acid oxidation disorders was developed in the present study. Thus, this screening for the designated diseases is ready to be performed as a nation-wide system in Japan.
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[Journal Article] Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.2010
Author(s)
Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M
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Journal Title
Hum Genet. 127(6)
Pages: 619-628
Peer Reviewed
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[Journal Article] 広島県におけるタンデムマス新生児スクリーニング10年間の経験2010
Author(s)
但馬剛, 佐倉伸夫, 津村弥来, 宇都宮朱里, 原圭一, 白尾謙一郎, 岡田賢, 西村裕, 小野浩明, 中常千代美, 渡川美弥子, 吉井千代子, 濱川以行, 畑郁江, 重松陽介
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Journal Title
日本マス・スクリーニング学会誌 20(3)
Pages: 217-222
Peer Reviewed
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[Journal Article] Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.2009
Author(s)
Nagasaka H, Okano Y, Tsukahara H, Shigematsu Y, Momoi T, Yorifuji J, Miida T, Ohura T, Kobayashi K, Saheki T, Hirano K, Takayanagi M, Yorifuji T
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Journal Title
Mol Genet Metab 97(1)
Pages: 21-26
Peer Reviewed
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[Journal Article] 短鎖3-ヒドロキシアシル-CoA 脱水素酵素欠損症と遺伝子診断した1例2009
Author(s)
七條光市, 梅本多喜子, 杉本真弓, 松浦里, 東田栄子, 渡邉力, 中津忠則, 吉田哲也, 内藤悦郎, 重松陽介, 平岡政弘
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Journal Title
日本小児科学会雑誌 113(11)
Pages: 1705-1710
Peer Reviewed
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[Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.2008
Author(s)
Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, higematsuY, Kobayashi M.
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Journal Title
Pediatr Res. 64(6)
Pages: 667-672
Peer Reviewed
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[Presentation] タンデムマススクリーングにおける制度管理の検討(第2報)2009
Author(s)
渡辺倫子, 鈴木恵美子, 原田正平, 加藤忠明, 松井陽, 福士勝, 鈴木健, 山上祐次, 小田切正昭, 安片恭子, 石山洋, 稲岡一考, 重松陽介, 小林弘典, 田崎隆二
Organizer
第36回日本マス・スクリーニング学会
Place of Presentation
札幌市
Year and Date
2009-08-22
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[Presentation] 広島県におけるタンデムマス新生児スクリーニング10年間の経験2009
Author(s)
但馬剛, 佐倉伸夫, 津村弥来, 原圭一, 白尾謙一郎, 岡田賢, 西村裕, 小野浩明, 中常千代美, 渡川美弥子, 吉井千代子, 濱川以行, 畑郁江, 重松陽介
Organizer
第36回日本マス・スクリーニング学会
Place of Presentation
札幌市
Year and Date
2009-08-22
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[Presentation] 短鎖3ヒドロキシアシルCoA 脱水素酵素(SCHAD)欠損症とタンデムマス・スクリーニング指標2008
Author(s)
重松陽介, 畑郁江, 七條光市, 梅本多喜子, 杉本真弓, 松浦里, 東田栄子, 渡邉力, 中津忠則, 吉田哲也, 内藤悦郎
Organizer
第35回日本マス・スクリーニング学会
Place of Presentation
松江
Year and Date
2008-08-30
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