文章基本信息

标题：Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
本地全文：下载
作者：Monique Piraud ; Magali Pettazzoni ; Marie de Antonio 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：23
页码：1-11
DOI：10.1016/j.ymgmr.2020.100583
出版社：Elsevier B.V.
关键词：ACN Acetonitrile ; BAB Butyl;4;aminobenzoate ; ERT Enzyme Replacement Therapy ; CRIM Cross Immune Reactive Material ; del ex 18 c.2481+102_2646+31 del ; Glc 4 Glc α 1;6Glc α 1;4Glc α 1;4Glc; tetraglucose; ; GSD Glycogen Storage Disease ; GVUS Genetic Variant of Unknown Significance ; IOPD Infantile;Onset Pompe disease ; IS Internal Standard ; LOD Limit of Detection ; LOPD Late;Onset Pompe disease ; LOQ Limit of Quantification ; NaBH 3 CN Sodium Cyanoborohydride ; PD Pompe Disease ; QC Quality Control ; SPE Solid Phase Extraction