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

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...

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Bibliographic Details
Main Authors:	Seok-Ho Yu, Laura Pollard, Tim Wood, Heather Flanagan-Steet, Richard Steet
Format:	Article
Language:	English
Published:	MDPI AG 2020-11-01
Series:	International Journal of Neonatal Screening
Subjects:	<i>IDUA</i> α-iduronidase newborn screening pseudodeficiency mucopolysaccharidosis
Online Access:	https://www.mdpi.com/2409-515X/6/4/88

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