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Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

Zackary M. Herbst, Xinying Hong, Leslie Urdaneta, Terri Klein, Christine Waggoner, Hsuan-Chieh Liao, Francyne Kubaski, Roberto Giugliani, Maria Fuller, Michael H. Gelb

2023Molecular Genetics and Metabolism16 citationsDOIOpen Access PDF

Topics & Concepts

MucopolysaccharidosisGlycosaminoglycanBiomarkerDisaccharideMucopolysaccharidosis IChemistryMucopolysaccharidosis type IGalactosemiaEnzyme replacement therapyBiochemistryMedicineInternal medicineGalactoseDiseaseLysosomal Storage Disorders ResearchNeonatal Respiratory Health ResearchCystic Fibrosis Research Advances
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis | Litcius