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

• Main Authors: Zackary M. Herbst (Author), Leslie Urdaneta (Author), Terri Klein (Author), Maria Fuller (Author), Michael H. Gelb (Author)
• 格式: 圖書
• 出版: MDPI AG, 2020-08-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...