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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.Biochimica Et Biophysica Acta|July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiencyUdo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.Metabolites|September 26, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational PipelineBrechtje Hoegen, Alan Zammit, Albert Gerritsen, et al.Diabetologia|April 7, 2017
SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetesJanna A van Diepen, Joris H Robben, Guido J Hooiveld, et al.Metabolites|September 27, 2024
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated PatientsJorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, et al.NMR in Biomedicine|March 17, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluidsUdo F H Engelke, Maria Tassini, Joseph Hayek, et al.The Journal of Clinical Endocrinology and Metabolism|December 3, 2014
Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomicsJ U Rao, U F H Engelke, F C G J Sweep, et al.Annals of Neurology|June 27, 2009
Free sialic acid storage disease without sialuriaFanny Mochel, Bingzhi Yang, Julie Barritault, et al.The British Journal of Dermatology|April 12, 2001
SDZ ASM 981: an emerging safe and effective treatment for atopic dermatitisT Luger, E J Van Leent, M Graeber, et al.Pageof 30