Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb<sub>3</sub> isoforms in Fabry disease patients

网站地图 | English | 公务邮箱

About the library

Background
History
Leadership
Organization

Opening Hours
Collections
Help Via Email

Electronic Information Resources

Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb₃ isoforms in Fabry disease patients

详细信息查看全文

作者：Mona Abaoui ; Michel Boutin ; Pamela Lavoie ; Christiane Auray-Blais ; ^{Christiane.auray-blais@usherbrooke.ca" class="auth_mail" title="E-mail the corresponding author}
关键词：OMIM ; Online Mendelian Inheritance in Man ; α-GAL A ; α-galactosidase A ; ERT ; enzyme replacement therapy ; CFDI ; Canadian Fabry Disease Initiative ; Gb3 or GL-3 ; globotriaosylceramide ; CTH ; ceramide trihexoside ; Ga2 ; galabiosylceramide ; CDH ; ceramide dihexoside ; lyso-Gb3 ; globotriaosylsphingosine ; REB ; Research Ethics Board ; CHUS ; Centre hospitalier universitaire de Sherbrooke ; MeOH ; methanol ; MTBE ; methyl tert-butyl ether ; IS ; internal standard ; ESI ; + ; ; positive electrospray ionization ; M
刊名：Clinica Chimica Acta
出版年：2016
出版时间：15 January 2016
年：2016
卷：452
期：Complete
页码：191-198
全文大小：934 K

文摘

•: UPLC–MS/MS method was developed for relative quantification of various Gb₃ isoforms.
•: Patients showed high methylated/non-methylated Gb₃ isoform concentrations versus controls.
•: Methylated Gb₃ isoforms were generally absent or in trace amounts in control urine samples.
•: Biomarker correlations were evaluated with age, gender and ERT treatment of patients.
•: Patients with p.N215S mutation excreted abnormal concentrations of methylated Gb₃ isoforms.

NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via email.