Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference19 articles.
1. B.K. Burton, Barbar, MPS-II NBS in IL, the First \textasciitilde1 yr, WORLD. (n.d.).
2. Validation and implementation of a highly sensitive and efficient newborn screening assay for mucopolysaccharidosis type II;Bilyeu;Int. J. Neonatal Screen.,2020
3. Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns;Chien;Orphanet. J. Rare Dis.,2020
4. Tandem mass spectrometry enzyme assays for multiplex detection of 10-mucopolysaccharidoses in dried blood spots and fibroblasts;Khaledi;Anal. Chem.,2020
5. Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency;Verheyen;J. Med. Genet.,2022
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