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...

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Bibliografske podrobnosti
izdano v:J Inherit Metab Dis
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2020
Teme:
Original Articles
Online dostop: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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