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

Autor: Willems AP; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., van der Ham M; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Schiebergen-Bronkhorst BGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., van Aalderen M; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., de Barse MMJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., De Gruyter FE; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., van Hoek IN; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Pras-Raves ML; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., de Sain-van der Velden MGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.

Publikováno v: Frontiers in molecular biosciences [Front Mol Biosci] 2023 Nov 02; Vol. 10, pp. 1283083. Date of Electronic Publication: 2023 Nov 02 (Print Publication: 2023).