Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

ダウンロード数 : ? 件

この文献の参照には次のURLをご利用ください : https://ir.lib.shimane-u.ac.jp/52785

言語	英語
著者	Stapleton Molly a Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States of America b Department of Biological Sciences, University of Delaware, Newark, DE, United States of America Kubaski Francyne Medical Genetics Service, HCPA, Department of Genetics and Molecular Biology-PPGBM, UFRGS, INAGEMP, Porto Alegre, Brazil Mason Robert W. a Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States of America b Department of Biological Sciences, University of Delaware, Newark, DE, United States of America Shintaku Haruo Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan 小林弘典山口清次竹谷健 Suzuki, Yasuyuki Medical Education Development Center, Gifu University, Japan Orii, Kenji Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Orii, Tadao Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Fukao, Toshiyuki Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Tomatsu, Shunji Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States of America / Department of Biological Sciences, University of Delaware, Newark, DE, United States of America / Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan / Medical Education Development Center, Gifu University, Japan / Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan / Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States of America
主題	Newborn screening; Mucopolysaccharidosis; Fetal GAG contamination; Tandem mass spectrometry; Glycosaminoglycans
掲載誌名	MOLECULAR GENETICS AND METABOLISM REPORTS
巻	22
ISSN（Online）	2214-4269
発行日	2020-03
DOI	10.1016/j.ymgmr.2019.100563
PubMed ID	31956510
出版者	ELSEVIER
資料タイプ	学術雑誌論文
部局	医学部
備考	This work was supported by grants from the Japanese MPS Society, the Austrian MPS Society, Bennett Foundation, and International Morquio Organization (Carol Ann Foundation). S.T. was supported by an Institutional Development Award (IDeA) from the National Institute of General Medical Sciences of NIH under grant numbers P20GM103464 and P30GM114736. M.S. was supported by the University of Delaware and the A.I duPont/Nemours Hospital for Children. F.K. was supported by Coordenacao de aperfeicoamento de pessoal de Nivel Superior (CAPES), Brazil. The content of the article has not been influenced by the sponsors. We also appreciate individual patients who participated in this project.