Publications by authors named "Deborah Mathis"

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Pre-Analytical Considerations in the simultaneous quantification of Ketone Bodies, Lactate, pyruvate and TCA cycle intermediates.
Kaitlyn Berchier, Chiara Nyffeler, Stephen Bruce, Clothilde Roux, Jean-Marc Nuoffer, Déborah Mathis

Clin Biochem· November 2025

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Dapagliflozin's impact on hormonal regulation and ketogenesis in type 1 diabetes: a randomised controlled crossover trial.
Andreas Gübeli, Nicole Steiner, Andreas Limacher, Déborah Mathis, Andreas Melmer

Diabetologia· October 2025

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Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.
Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis

NPJ Metab Health Dis· May 2025

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Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
Adhuresa Ramosaj, Mariia Borsuk, Jarl Underhaug, Déborah Mathis, Shirou Matsumoto

J Inherit Metab Dis· May 2025

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Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.
Christian Urzì, Christoph Meyer, Déborah Mathis, Peter Vermathen, Jean-Marc Nuoffer

J Inherit Metab Dis· January 2025

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Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells.
Déborah Mathis, Therina du Toit, Emre Murat Altinkilic, Darko Stojkov, Christian Urzì

J Steroid Biochem Mol Biol· October 2024

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Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Déborah Mathis, Jasmine Koch, Sophie Koller, Kay Sauter, Christa Flück

Mol Genet Metab Rep· June 2024

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Specific GAG ratios in the diagnosis of mucopolysaccharidoses.
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, Liya Arackal, Haoyue Zhang

JIMD Rep· March 2024

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Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass.
Anja Levis, Markus Huber, Déborah Mathis, Mark G Filipovic, Andrea Stieger

Cells· February 2024

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Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
Lisa M Crowther, Martin Poms, Martina Zandl-Lang, Lucia Abela, Hans Hartmann, Déborah Mathis

J Inherit Metab Dis· January 2023

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Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Matthias Christen, Jos Bongers, Déborah Mathis, Vidhya Jagannathan, Rodrigo Gutierrez Quintana

Genes (Basel)· October 2022

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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.
Déborah Mathis, Joanne Croft, Petr Chrastina, Brian Fowler, Christine Vianey-Saban

J Inherit Metab Dis· September 2022

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Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses.
Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, Angelika Schoster

Mol Genet Metab Rep· December 2021

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Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney.
Sophia N Verouti, Delphine Lambert, Déborah Mathis, Ganesh Pathare, Geneviève Escher

Am J Physiol Renal Physiol· March 2021

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Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (-ko/ki) of methylmalonic aciduria.
Marie Lucienne, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R Baumgartner

JIMD Rep· March 2021

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LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.
Déborah Mathis, Karin Beese, Carmen Rüegg, Barbara Plecko, Martin Hersberger

J Inherit Metab Dis· September 2020

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Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
Thomas Boehm, Holger Hubmann, Karin Petroczi, Déborah Mathis, Kristaps Klavins

J Inherit Metab Dis· July 2020

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In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Marie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Julia Calzada-Wack, Déborah Mathis

Biochim Biophys Acta Mol Basis Dis· March 2020

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Validation of a Food Frequency Questionnaire to Assess Intake of Polyunsaturated Fatty Acids in Switzerland.
Isabelle Herter-Aeberli, Celeste Graf, Anna Vollenweider, Isabelle Häberling, Pakeerathan Srikanthan, Déborah Mathis

Nutrients· August 2019

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New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Lisa M Crowther, Déborah Mathis, Martin Poms, Barbara Plecko

J Inherit Metab Dis· July 2019

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Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Rangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, Celine Bürer, Barbara Plecko

Neuropediatrics· April 2018

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Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt

J Med Genet· December 2017

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Early biomarker response and patient preferences to oral and intramuscular vitamin B12 substitution in primary care: a randomised parallel-group trial.
Corina Metaxas, Deborah Mathis, Cyrill Jeger, Kurt Eduard Hersberger, Isabelle Arnet

Swiss Med Wkly· October 2017

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A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.
Gabriella Allegri, Sereina Deplazes, Hiu Man Grisch-Chan, Déborah Mathis, Ralph Fingerhut

Clin Chim Acta· January 2017

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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Patrick Forny, Anke Schumann, Merima Mustedanagic, Déborah Mathis, Marie-Angela Wulf

J Biol Chem· September 2016

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