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Newborn Screening: Review of its Impact for Cystinosis

Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected a...

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Detalles Bibliográficos
Autores principales: Hohenfellner, Katharina, Elenberg, Ewa, Ariceta, Gema, Nesterova, Galina, Soliman, Neveen A., Topaloglu, Rezan
Formato: Online Artigo Texto
Idioma:English
Publicado: MDPI 2022
Materias:
Acceso en liña:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997957/
https://www.ncbi.nlm.nih.gov/pubmed/35406673
http://dx.doi.org/10.3390/cells11071109