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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540372/
https://www.ncbi.nlm.nih.gov/pubmed/32406085
http://dx.doi.org/10.1002/jimd.12253

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