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

• Hoofdauteurs: Zackary M. Herbst (Auteur), Leslie Urdaneta (Auteur), Terri Klein (Auteur), Barbara K. Burton (Auteur), Khaja Basheeruddin (Auteur), Hsuan-Chieh Liao (Auteur), Maria Fuller (Auteur), Michael H. Gelb (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2022-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...