A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Background: Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs in time, effecting an emerging need for a comprehensive test to acquire an overview of me...

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Detalles Bibliográficos
Autores principales: Willems, Anke P., van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G. M., van Aalderen, Mirjam, de Barse, Martina M. J., De Gruyter, Fini E., van Hoek, Ilja N., Pras-Raves, Mia L., de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., Jans, Judith J. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657655/
https://www.ncbi.nlm.nih.gov/pubmed/38028537
http://dx.doi.org/10.3389/fmolb.2023.1283083

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