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Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results

Jennifer T. Saville, Zackary M. Herbst, Michael H. Gelb, Maria Fuller

2023Molecular Genetics and Metabolism13 citationsDOIOpen Access PDF

Topics & Concepts

Newborn screeningGlycosaminoglycanFalse positive paradoxHydrolaseChemistryLysosomal storage diseaseBiochemistryBeta-galactosidaseEnzymeComputational biologyBiologyGeneEscherichia coliMachine learningComputer scienceLysosomal Storage Disorders ResearchCarbohydrate Chemistry and SynthesisTrypanosoma species research and implications
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results | Litcius