换一批Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.
第一作者：
Monique,Piraud
第一单位：
Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Service de Biochimie et Biologie Moléculaire Grand-Est, Hospices Civils de Lyon, Bron, France.
作者：
关键词
ACN, AcetonitrileBAB, Butyl-4-aminobenzoateCRIM, Cross Immune Reactive MaterialERT, Enzyme Replacement TherapyGSD, Glycogen Storage DiseaseGVUS, Genetic Variant of Unknown SignificanceGlc4, Glcα1-6Glcα1-4Glcα1-4Glc, tetraglucose,IOPD, Infantile-Onset Pompe diseaseIS, Internal StandardLOD, Limit of DetectionLOPD, Late-Onset Pompe diseaseLOQ, Limit of QuantificationNaBH3CN, Sodium CyanoborohydridePD, Pompe DiseaseQC, Quality ControlSPE, Solid Phase Extractiondel ex 18, c.2481+102_2646+31 del
DOI
10.1016/j.ymgmr.2020.100583
PMID
32382504
发布时间
2020-09-28
- 浏览0
Molecular genetics and metabolism reports
2020年23卷
100583页
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