Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

All newborn screening (NBS) for mucopolysaccharidosis-I and -II (MPS-I and MPS-II) is carried out via the measurement of α-iduronidase (IDUA) and iduronate-2-sulfatase (IDS) enzymatic activity, respectively, in dried blood spots (DBS). The majority of low enzyme results are due to pseudodeficiencies...

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Bibliographic Details
Main Authors: Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Barbara K. Burton, Khaja Basheeruddin, Hsuan-Chieh Liao, Maria Fuller, Michael H. Gelb
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
glycosaminoglycans
mucopolysaccharidosis
Hunter syndrome
mass spectrometry
biochemical genetics
Online Access:https://www.mdpi.com/2409-515X/8/1/9

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https://www.mdpi.com/2409-515X/8/1/9

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