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

• Päätekijät: Zackary M. Herbst (Tekijä), Leslie Urdaneta (Tekijä), Terri Klein (Tekijä), Barbara K. Burton (Tekijä), Khaja Basheeruddin (Tekijä), Hsuan-Chieh Liao (Tekijä), Maria Fuller (Tekijä), Michael H. Gelb (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: MDPI AG, 2022-01-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...