Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.
第一作者:
Ladislav,Kuchař
第一单位:
Institute of Inherited Metabolic Diseases, First Faculty of Medicine and General Teaching Hospital, Charles University, 128 08 Prague, Czech Republic.
作者:
关键词
ASACVDEAEDEAE-cellulose membraneDUSDiethylaminoethylDry urinary samplesIPNIsoformsMLDMS/MSPTFEPsap-dS/NSRMScreening for metachromatic leukodystrophyTandem mass spectrometryUrinary sulfatidearylsulfatase Acoefficient of variationdry urinary sampleisoform profile number (ratio of the sum of the major five isoforms and the C18:0 sulfatide)metachromatic leukodystrophypolytetrafluoroethyleneprosaposin deficiencyselected reaction monitoringsignal to noise ratiotandem mass spectrometry
主题词
青少年(Adolescent);病例对照研究(Case-Control Studies);儿童(Child);儿童, 学龄前(Child, Preschool);DEAE纤维素(DEAE-Cellulose);干燥法(Desiccation);女(雌)性(Female);人类(Humans);婴儿(Infant);脑白质营养不良, 异染性(Leukodystrophy, Metachromatic);男(雄)性(Male);膜, 人工(Membranes, Artificial);中年人(Middle Aged);参考标准(Reference Standards);固相萃取(Solid Phase Extraction);标本制备(Specimen Handling);硫糖神经鞘类脂(Sulfoglycosphingolipids);串联质谱法(Tandem Mass Spectrometry)
DOI
10.1016/j.cca.2013.06.027
PMID
23838369
发布时间
2021-10-21
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