Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. The objective of this study was to evaluate the contribution of targeted metabolic testing for diagnosing suspected IMDs...

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Detalles Bibliográficos
Autores principales: Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773867/
https://www.ncbi.nlm.nih.gov/pubmed/31575911
http://dx.doi.org/10.1038/s41598-019-50518-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773867/
https://www.ncbi.nlm.nih.gov/pubmed/31575911
http://dx.doi.org/10.1038/s41598-019-50518-0

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