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Metabolites|January 21, 2023
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics DataMichiel Bongaerts, Purva Kulkarni, Alan Zammit, et al.Plos Genetics|July 9, 2020
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATPFlora Szeri, Stefan Lundkvist, Sylvia Donnelly, et al.Journal of the American Chemical Society|September 11, 2025
Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic CompositionThom B Posthumus, Udo F H Engelke, Ruud L E G Aspers, et al.Pediatric Research|June 27, 2002
1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recoveryAnne-Marie Van Cappellen Van Walsum, Henk W Jongsma, Ron A Wevers, et al.NMR in Biomedicine|March 17, 2006
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolismUdo F H Engelke, Berry Kremer, Leo A J Kluijtmans, et al.Neurology|January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesF Mochel, U F H Engelke, J Barritault, et al.Journal of Inherited Metabolic Disease|May 15, 2020
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profilesTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.Annals of Clinical Biochemistry|January 25, 2003
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetaseWim Ruitenbeek, Keiko Kobayashi, Mikio Iijima, et al.Journal of Inherited Metabolic Disease|November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectraJan Václavík, Karlien L M Coene, Ivo Vrobel, et al.Journal of Inherited Metabolic Disease|April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolismLaura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.Pageof 7