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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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