Deborah R. Mathis
Bern, BE, Switzerland
Last Updated: 09/26/2026
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Found 35 publications
Improving the performance of biochemical genetic testing through external quality assessment.
Journal: Clinical chemistry and laboratory medicine
Published: May 22, 2026
Empagliflozin in GSD-Ib: Long-term safety and sustained recovery of neutrophil function including NET formation.
Journal: Molecular genetics and metabolism reports
Published: May 19, 2026
Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.
Journal: Journal of innate immunity
Published: February 26, 2026
Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates.
Journal: Clinical biochemistry
Published: August 04, 2025
Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
Journal: Journal of inherited metabolic disease
Published: November 13, 2024
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.
Journal: npj metabolic health and disease
Published: November 04, 2024
Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells.
Journal: The Journal of steroid biochemistry and molecular biology
Published: March 15, 2024
Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.
Journal: Journal of inherited metabolic disease
Published: February 14, 2024
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Journal: Molecular genetics and metabolism reports
Published: January 24, 2024
Specific GAG ratios in the diagnosis of mucopolysaccharidoses.
Journal: JIMD reports
Published: September 26, 2023
Last Updated: 09/26/2026