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Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening
http://hdl.handle.net/10098/1182
http://hdl.handle.net/10098/11820126f698-aca1-4b57-a83a-f873dc9f4f49
名前 / ファイル | ライセンス | アクション |
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Shigematsu_stab_2.pdf (218.9 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2007-11-22 | |||||
タイトル | ||||||
タイトル | Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Glutaric acid | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 3-Hydroxyglutaric acid | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Newborn screening | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Carnitine | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_1843 | |||||
資源タイプ | other | |||||
著者 |
SHIGEMATSU, Yosuke
× SHIGEMATSU, Yosuke× HATA, Ikue× TANAKA, Yukie× TAJIMA, Go× SAKURA, Nobuo× NAITO, Etsuo× YORIFUJI, Toru |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | We developed a simple and sensitive stable-isotope dilution method for the quantification of 3-hydroxyglutaric acid (3HGA) and glutaric acid (GA) in body fluids. In our method, tert-butyldimethylsilyl (tBDMS) derivatives of 3HGA and GA were measured with a conventional electron-impact ionization (EI) mode in gas chromatography–mass spectrometry (GC–MS). The control values for 3HGA in nmol/ml were 0.15 ± 0.08 (serum; n = 10) and 0.07 ± 0.03 (CSF; n = 10). In addition, glutarylcarnitine and free carnitine were quantified by electrospray tandem mass spectrometry. Using these methods, we monitored 3HGA, GA, and glutarylcarnitine in the body fluids of three patients with glutaric aciduria type 1 found during newborn screening. None of the patients had experienced neurological strokes, which are possibly caused by the accumulation of 3HGA, at 15–24 months of age under a disease-specific treatment, including carnitine supplementation. Our data showed that 3HGA levels were relatively high in some serum samples with lower glutarylcarnitine and carnitine levels, suggesting that carnitine supplementation may play a role in preventing the accumulation of 3HGA in patients with this disease. | |||||
書誌情報 |
Journal of Chromatography B 巻 823, 号 1, p. 7, 発行日 2005-08 |
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出版者 | ||||||
出版者 | Elsevier | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 15700232 | |||||
書誌レコードID | ||||||
識別子タイプ | NCID | |||||
関連識別子 | TD00006126 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.jchromb.2005.03.031 | |||||
著者版フラグ | ||||||
出版タイプ | AO | |||||
出版タイプResource | http://purl.org/coar/version/c_b1a7d7d4d402bcce |