Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I

In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive re...

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Detalles Bibliográficos
Autores principales: Dorley, M. Christine, Dizikes, George J., Pickens, Charles Austin, Cuthbert, Carla, Basheeruddin, Khaja, Gulamali-Majid, Fizza, Hetterich, Paul, Hietala, Amy, Kelsey, Ashley, Klug, Tracy, Lesko, Barbara, Mills, Michelle, Moloney, Shawn, Neogi, Partha, Orsini, Joseph, Singer, Douglas, Petritis, Konstantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10059896/
https://www.ncbi.nlm.nih.gov/pubmed/36975849
http://dx.doi.org/10.3390/ijns9010011

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