Evaluation of Multiple Methods for Quantification of Glycosaminoaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

Evaluation of Multiple Methods for Quantification of Glycosaminoaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

All newborn screening (NBS) for mucopolysaccharidosis-I (MPS-I) is carried out by the measurement of α-iduronidase (IDUA) enzymatic activity in dried blood spots (DBS). The majority of low enzyme results are due to pseudodeficiencies, and studies from the Mayo Clinic have shown that the false positi...

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Bibliographic Details
Main Authors: Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Maria Fuller, Michael H. Gelb
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
glycosaminoglycans
mucopolysaccharidosis
hurler syndrome
scheie syndrome
mass spectrometry
Online Access:https://www.mdpi.com/2409-515X/6/3/69

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https://www.mdpi.com/2409-515X/6/3/69

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