Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

PURPOSE: Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based on known biomarkers, alpha‐L‐iduronidase enzyme a...

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Detalles Bibliográficos
Autores principales: Langan, Thomas J., Jalal, Kabir, Barczykowski, Amy L., Carter, Randy L., Stapleton, Molly, Orii, Kenji, Fukao, Toshiyuki, Kobayashi, Hironori, Yamaguchi, Seiji, Tomatsu, Shunji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052686/
https://www.ncbi.nlm.nih.gov/pubmed/32154058
http://dx.doi.org/10.1002/jmd2.12093

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