A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which disorders are appropriate for screening at birth; how...

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Detalles Bibliográficos
Autores principales: Burlina, Alberto, Jones, Simon A., Chakrapani, Anupam, Church, Heather J., Heales, Simon, Wu, Teresa H. Y., Morton, Georgina, Roberts, Patricia, Sluys, Erica F., Cheillan, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036245/
https://www.ncbi.nlm.nih.gov/pubmed/35466196
http://dx.doi.org/10.3390/ijns8020025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036245/
https://www.ncbi.nlm.nih.gov/pubmed/35466196
http://dx.doi.org/10.3390/ijns8020025

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