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Hyperglycinuria: A Family Report
https://doi.org/10.18999/nagjms.42.1-2.7
https://doi.org/10.18999/nagjms.42.1-2.7a7e16a2a-6230-4c0e-af32-aaf64c6b002e
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
v42n12p7_12.pdf (359.5 kB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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| 公開日 | 2013-01-23 | |||||
| タイトル | ||||||
| タイトル | Hyperglycinuria: A Family Report | |||||
| 言語 | en | |||||
| 著者 |
KATO, TOMOAKI
× KATO, TOMOAKI |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | A 3-year-old girl with mental retardation and a cleft palate disclosed hyperglycinuria. Serum glycine concentration was within the normal limits and renal clearance of glycine was elevated. Oral loading test of glycine showed that the intestinal absorption of glycine seemed to be nonnal. With intravenous loading of glycine, maximum tubular reabsorption rate (Tm) for glycine could not be obtained. Intravenous infusion of L-proline indicated that the Tm for proline was about half the normal value and that the impaired glycine reabsorption was further depressed. The patient's mother also had a reduced Tm for proline although she did not exhibit distinct hyperglycinuria. It seems likely that the patient and her mother have a heterozygous trait for iminoglycinuria. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Nagoya University School of Medicine | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| ID登録 | ||||||
| ID登録 | 10.18999/nagjms.42.1-2.7 | |||||
| ID登録タイプ | JaLC | |||||
| 関連情報 | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/4212/4212.html | |||||
| ISSN（print） | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0027-7622 | |||||
| ISSN（Online） | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 2186-3326 | |||||
| 書誌情報 |
en : Nagoya Journal of Medical Science 巻 42, 号 1-2, p. 7-12, 発行日 1979-12 |
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| 著者版フラグ | ||||||
| 値 | publisher | |||||
| URI | ||||||
| 識別子 | http://hdl.handle.net/2237/17361 | |||||
| 識別子タイプ | HDL | |||||
