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ミウラ マズミ
Mazumi Miura
三浦 真澄 所属 川崎医科大学 医学部 臨床医学 小児科学 職種 教授 |
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| 論文種別 | 症例報告 |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation |
| 掲載誌名 | 正式名：EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY ISSNコード：1090-3798 |
| 出版社 | ELSEVIER SCI LTD |
| 巻・号・頁 | 12(3),pp.262-265 |
| 著者・共著者 | Tohru Okanishi,Yoshiaki Saito,Isao Yuasa,Mazumi Miura,Ikuo Nagata,Yoshihiro Maegaki,Kousaku Ohno |
| 発行年月 | 2008/05 |
| 概要 | This report describes a female infant with cutis laxa, short stature, microcephaly, wide anterior fontanel and bifrontal cortical malformation. Isoelectrofocusing of plasma transferrin and apolipoprotein C-III showed abnormal patterns suggesting defective N- and O-glycosylation. Together with recently reported patients, this patient represents a novel type of congenital disorder of glycosylation. (C) 2007 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
| DOI | 10.1016/j.ejpn.2007.08.006 |
| PMID | 18187349 |