A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening

• Egile Nagusiak: Seok-Ho Yu (Egilea), Laura Pollard (Egilea), Tim Wood (Egilea), Heather Flanagan-Steet (Egilea), Richard Steet (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2020-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in <i>IDUA</i>, the gene that encodes the glycosaminoglycan-degrading enzyme α-L-iduronidase. Newborn screening efforts for MPSI have greatly increased the number of novel <i>IDUA</i> varia...