乳児シアル酸蓄積病 infantile sialic acid storage disease
English Journal
- Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
- van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ.SourceDepartment Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 3015GE, Rotterdam, The Netherlands.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2011 Oct;34(5):1069-73. Epub 2011 May 27.
- Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla
- PMID 21617927
- Sensitivity and specificity of computed tomography and magnetic resonance imaging in the diagnosis of isolated sphenoid sinus diseases.
- Fawaz SA, Ezzat WF, Salman MI.SourceENT Department, Faculty of Medicine, Ain-Shams University, Cairo, Egypt.
- The Laryngoscope.Laryngoscope.2011 Jul;121(7):1584-9. doi: 10.1002/lary.21828. Epub 2011 Jun 9.
- OBJECTIVES/HYPOTHESIS: The sphenoid sinus is uncommonly affected by inflammatory or neoplastic lesions. Initial onset of isolated sphenoid sinus diseases (ISSD) is generally asymptomatic. The objectives of this study were to estimate the sensitivity and specificity of computed tomography (CT) and ma
- PMID 21660976
Japanese Journal
- 液体状態における酢酸，ギ酸メチルの分子間相互作用依存性
- 西田 尚大,金井 清二,徳島 高,堀川 裕加,高橋 修
- Journal of Computer Chemistry, Japan 14(3), 60-62, 2015
- We performed theoretically to reproduce site-selective X-ray emission spectroscopy (XES) spectra of acetic acid and methyl formate in the liquid phase at two oxygen K-edge (OC=O an …
- NAID 130005099919
- Isolated Sphenoid Sinus Disease—A Retrospective Analysis
- Takemoto Yousuke,Mikuriya Takefumi,Hashimoto Makoto,Yamashita Hiroshi
- 耳鼻咽喉科臨床 補冊 141(0), 48-49, 2015
- … We report herein on 21 cases of isolated sphenoid sinus disease (ISSD) treated surgically at the Department of Otolaryngology, Yamaguchi University, Graduate School of Medicine between March 2008 and March 2012. … The final diagnosis of ISSD was established after histopathological examinations of the excised surgical specimen. …
- NAID 130005077948
- 1P023 真空紫外円二色性分光によるα1 酸性糖蛋白質と生体膜の相互作用機構の解明(蛋白質: 構造機能相関,ポスター,第52回日本生物物理学会年会(2014年度))
- Koichi Matsuo,Hirofumi Namatame,Masaki Taniguchi,Kunihiko Gekko
- 生物物理 54(SUPPLEMENT_1-2), S144, 2014-08-20
- NAID 110009932247
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| リンク元 | 「乳児シアル酸蓄積病」「infantile sialic acid storage disease」 |
| 関連記事 | 「ISS」「IS」 |