A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options

A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options

Summary

NBS for MPS II can be efficiently achieved with LC-MS/MS measuring I2S activity. The NRE GAG biomarker successfully differentiated between newborns with MPS II ...

Description

NBS for MPS II can be efficiently achieved with LC-MS/MS measuring I2S activity. The NRE GAG biomarker successfully differentiated between newborns with MPS II ...

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