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Mathis, Déborah; Koch, Jasmine; Koller, Sophie; Sauter, Kay; Flück, Christa; Uldry, Anne-Christine; Forny, Patrick; Froese, D Sean; Laemmle, Alexander (2024). Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency. Molecular genetics and metabolism reports, 39(101066) Elsevier 10.1016/j.ymgmr.2024.101066
Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412
Levis, Anja; Huber, Markus; Mathis, Déborah; Filipovic, Mark G; Stieger, Andrea; Räber, Lorenz; Stueber, Frank; Luedi, Markus M (2024). Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass. Cells, 13(4) MDPI 10.3390/cells13040294
Crowther, Lisa M; Poms, Martin; Zandl-Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara (2023). Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: relevance to pyridoxine-dependent epilepsy. Journal of inherited metabolic disease, 46(1), pp. 129-142. Wiley 10.1002/jimd.12569
Mathis, Déborah; Croft, Joanne; Chrastina, Petr; Fowler, Brian; Vianey-Saban, Christine; Ruijter, George J G (2022). The role of ERNDIM Diagnostic Proficiency Schemes in improving the quality of diagnostic testing for Inherited Metabolic Diseases. Journal of inherited metabolic disease, 45(5), pp. 926-936. Wiley 10.1002/jimd.12523
Christen, Matthias; Bongers, Jos; Mathis, Déborah; Jagannathan, Vidya; Quintana, Rodrigo Gutierrez; Leeb, Tosso (2022). ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Genes, 13(10), p. 1847. MDPI 10.3390/genes13101847
Verouti, Sophia N; Lambert, Delphine; Mathis, Déborah; Pathare, Ganesh; Escher, Geneviève; Vogt, Bruno; Fuster, Daniel G. (2021). The solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney. American journal of physiology. Renal physiology, 320(3), F351-F358. American Physiological Society 10.1152/ajprenal.00475.2020
Mathis, Déborah; Sass, Jörn Oliver; Graubner, Claudia; Schoster, Angelika (2021). Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses. Molecular genetics and metabolism reports, 29, p. 100827. Elsevier 10.1016/j.ymgmr.2021.100827
Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical biochemistry, 48(9), pp. 596-602. Elsevier 10.1016/j.clinbiochem.2015.03.007
