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Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?

Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early diagnosis for those cases, or what should be calle...

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Detalles Bibliográficos
Autor principal: Wilcken, Bridget
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510244/
https://www.ncbi.nlm.nih.gov/pubmed/33072944
http://dx.doi.org/10.3390/ijns4030021