Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

The current diagnostic work‐up of inborn errors of metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure to accelerate the diagnosis of patients with IEM. Urinary samples, spiked with thre...

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Detalles Bibliográficos
Autores principales: Steinbusch, Laura K.M., Wang, Ping, Waterval, Huub W.A.H., Stassen, Fons A.P.M., Coene, Karlien L.M., Engelke, Udo F.H., Habets, Daphna D.J., Bierau, Jörgen, Körver‐Keularts, Irene M.L.W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518793/
https://www.ncbi.nlm.nih.gov/pubmed/33843072
http://dx.doi.org/10.1002/jimd.12385

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518793/
https://www.ncbi.nlm.nih.gov/pubmed/33843072
http://dx.doi.org/10.1002/jimd.12385

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