The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants

PURPOSE: We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSD) for public health mandated screening. METHODS: At five participating high-birth-rate, ethnically diverse New Yor...

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Detalles Bibliográficos
Autores principales: Wasserstein, Melissa P., Caggana, Michele, Bailey, Sean M., Desnick, Robert J., Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R., Kornreich, Ruth, Kupchik, S. Gabriel, Martin, Monica, Nafday, Suhas M., Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369014/
https://www.ncbi.nlm.nih.gov/pubmed/30093709
http://dx.doi.org/10.1038/s41436-018-0129-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369014/
https://www.ncbi.nlm.nih.gov/pubmed/30093709
http://dx.doi.org/10.1038/s41436-018-0129-y

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