Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.-论文-万方医学网

作者： Walinka,van Tol ^[1] ; Monique,van Scherpenzeel ^[2] ; Mohammad,Alsady ^[2] ; Moniek,Riemersma ^[1] ; Esther,Hermans ^[1] ; Else,Kragt ^[1] ; Giorgio,Tasca ^[2] ; Erik-Jan,Kamsteeg ^[3] ; Maartje,Pennings ^[4] ; Ellen,van Beusekom ^[4] ; Jeroen R,Vermeulen ^[4] ; Hans,van Bokhoven ^[5] ; Nicol C,Voermans ^[4] ; Michèl A,Willemsen ^[1] ; Angel,Ashikov ^[6] ; Dirk J,Lefeber ^[1]

作者单位： Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. ^[1] Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. ^[2] Unità Operativa Complessa di Neurologia, Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico A. Gemelli IRCCS, Roma, Italy. ^[3] Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. ^[4] Department of Child Neurology, VUmc, Amsterdam, the Netherlands. ^[5] Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. ^[6] Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Dirk.Lefeber@radboudumc.nl. ^[7]

主题词动物(Animals);色谱法, 液相(Chromatography, Liquid);营养保健品(Dietary Supplements);药物监测(Drug Monitoring);肌营养不良蛋白聚糖类(Dystroglycans);女(雌)性(Female);糖基化(Glycosylation);HEK293细胞(HEK293 Cells);人类(Humans);男(雄)性(Male);质谱分析法(Mass Spectrometry);小鼠(Mice);小鼠, 转基因(Mice, Transgenic);中年人(Middle Aged);肌, 骨骼(Muscle, Skeletal);肌营养不良(Muscular Dystrophies);突变(Mutation);核苷二磷酸糖类(Nucleoside Diphosphate Sugars);核苷酸基转移酶类(Nucleotidyltransferases);核糖醇(Ribitol);核糖(Ribose)

DOI 10.1373/clinchem.2019.305391

PMID 31375477

发布时间 2020-06-05

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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Clinical chemistry

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Clinical chemistry

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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Clinical chemistry

相似文献

Clinical chemistry

相关期刊

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