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...

詳細記述

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書誌詳細
出版年:J Inherit Metab Dis
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2020
主題:
Original Articles
オンライン･アクセス: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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