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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Sci Rep
Hauptverfasser: Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6773867/
https://ncbi.nlm.nih.gov/pubmed/31575911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-50518-0
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