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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Detalles Bibliográficos
Publicado en: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.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2020
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Original Articles
Acceso en liña: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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