Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre

Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are identified by either newborn screening programmes or clinician-initiated targeted biochemical screening. This study examines the relative contribution o...

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Detalles Bibliográficos
Autores principales: Dunne, Esme, O’Reilly, Daniel, Murphy, Claire A., Howard, Caoimhe, Kelleher, Grainne, Suttie, Thomas, Boyle, Michael A., Brady, Jennifer J., Knerr, Ina, Khuffash, Afif El
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508208/
https://www.ncbi.nlm.nih.gov/pubmed/35945291
http://dx.doi.org/10.1007/s00431-022-04588-4

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