Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience.
glycosaminoglycans
lysosomal storage disease
mucopolysaccharidoses
pseudodeficiency
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
19 Nov 2020
19 Nov 2020
Historique:
received:
10
11
2020
revised:
16
11
2020
accepted:
17
11
2020
entrez:
24
11
2020
pubmed:
25
11
2020
medline:
25
11
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33227921
pii: ijns6040091
doi: 10.3390/ijns6040091
pmc: PMC7712368
pii:
doi:
Types de publication
Journal Article
Langues
eng
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