Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles

Timely diagnosis is essential for patients with neurometabolic disorders to enable targeted treatment. Next‐Generation Metabolic Screening (NGMS) allows for simultaneous screening of multiple diseases and yields a holistic view of disturbed metabolic pathways. We applied this technique to define a c...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Inherit Metab Dis
Prif Awduron: Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, van der Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2020
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7540372/
https://ncbi.nlm.nih.gov/pubmed/32406085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12253
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