Development of multi-point recognizing derivatization procedures for reliable diagnoses of inborn errors of metabolism
| Project/Area Number |
23590046
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Physical pharmacy
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| Research Institution | Tokyo University of Science |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 分析科学 / 先天性代謝異常症 / LC/ESI-MS/MS / 多点分子認識 / 誘導体化 / 精密検査 / バイオマーカー / 高感度 / ESIラベル化 / Smith-Lemli-Opitz症候群 / LCHAD欠損症 / 潜在的ビタミンD欠乏症 / キラル分離 / ビシナルジオール / s-cis-ジエン / 先天性副腎過形成症 |
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| Research Abstract |
The multi-point recognizing derivatization procedures, which enable to the highly sensitive and specific determination of diagnostic makers by LC/ESI-MS/MS, have been developed for reliable diagnoses of inborn errors of metabolism, such as congenital adrenal hyperplasia (CAH). The developed procedures was applied to the clinical sample analyses (dried blood spot, urine, saliva and so on) and proved to have sufficient practicality in diagnoses of CAH, long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and neonatal vitamin D deficiency.
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Report
(4 results)
Research Products
(25 results)
