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

The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme α-L-iduronidase. Newborn screening efforts for MPSI have greatly increased the number of novel IDUA variants identified, but with insufficient...

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Detalles Bibliográficos
Autores principales: Yu, Seok-Ho, Pollard, Laura, Wood, Tim, Flanagan-Steet, Heather, Steet, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711455/
https://www.ncbi.nlm.nih.gov/pubmed/33198351
http://dx.doi.org/10.3390/ijns6040088

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711455/
https://www.ncbi.nlm.nih.gov/pubmed/33198351
http://dx.doi.org/10.3390/ijns6040088

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