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Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis.
https://repo.qst.go.jp/records/47154
https://repo.qst.go.jp/records/47154dd5270e7-cf08-4b95-9673-de587155c127
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2015-07-21 | |||||
| タイトル | ||||||
| タイトル | Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis. | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Sato, Takeshi
× Sato, Takeshi× Muroya, Koji× Hanakawa, Junko× Asakura, Yumi× Aida, Noriko× Tomiyasu, Moyoko× Tajima, Go× Hasegawa, Tomonobu× Adachi, Masanori× 富安 もよこ |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | We describe a male neonate with classic maple syrup urine disease (MSUD) in metabolic crisis. On day 7 of life, he was referred to hospital because of coma and metabolic acidosis with maple syrup odor. On day 4 after admission, brain magnetic resonance imaging findings were consistent with encephalopathy due to MSUD. Proton magnetic resonance spectroscopy ((1) H-MRS) showed a large methyl resonance peak at 0.9 p.p.m. The diagnosis of MSUD was confirmed on low branched-chain α-keto acid dehydrogenase complex activity in lymphocyte. (1) H-MR spectra were obtained in 10 min, while it took at least several days to obtain the results of other diagnostic examinations. In convalescence, the peak at 0.9 p.p.m. decreased. The large methyl resonance peak at 0.9 p.p.m. in brain (1) H-MRS would be one of the earliest clues to the diagnosis of classic MSUD in the neonatal period, especially in metabolic crisis. | |||||
| 書誌情報 |
Pediatrics international : official journal of the Japan Pediatric Society 巻 56, 号 1, p. 112-115, 発行日 2014-02 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1328-8067 | |||||
| PubMed番号 | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | 24548198 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1111/ped.12211 | |||||
