A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-11-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/6/4/88 |