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Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience Clarke, Lorne A.; Dickson, Patricia; Ellinwood, N. Matthew; Klein, Terri L.

Abstract

There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.

Item Metadata

Title
Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience
Creator
Clarke, Lorne A.; Dickson, Patricia; Ellinwood, N. Matthew; Klein, Terri L.
Contributor
Children's Hospital (Vancouver, B.C.). Research Institute
Publisher
Multidisciplinary Digital Publishing Institute
Date Issued
2020-11-19
Description
There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.
Subject
lysosomal storage disease; mucopolysaccharidoses; glycosaminoglycans; pseudodeficiency
Genre
Article
Type
Text
Language
eng
Date Available
2021-01-07
Provider
Vancouver : University of British Columbia Library
Rights
CC BY 4.0
DOI
10.14288/1.0395503
URI
http://hdl.handle.net/2429/77017
Affiliation
Medicine, Faculty of; Non UBC; Medical Genetics, Department of
Citation
International Journal of Neonatal Screening 6 (4): 91 (2020)
Publisher DOI
10.3390/ijns6040091
Peer Review Status
Reviewed
Scholarly Level
Faculty
Rights URI
https://creativecommons.org/licenses/by/4.0/
Aggregated Source Repository
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CC BY 4.0