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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe

Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce caregiver stress in the journey to diagnosis and a...

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Detalles Bibliográficos
Autores principales: Jones, Simon A., Cheillan, David, Chakrapani, Anupam, Church, Heather J., Heales, Simon, Wu, Teresa H. Y., Morton, Georgina, Roberts, Patricia, Sluys, Erica F., Burlina, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8951961/
https://www.ncbi.nlm.nih.gov/pubmed/35323199
http://dx.doi.org/10.3390/ijns8010020