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American Journal of Physiology. Renal Physiology
|
January 18, 2021
Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney
Sophia N Verouti, Delphine Lambert, Déborah Mathis, et al.
Clinical Biochemistry
|
November 15, 2025
Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates
Kaitlyn Berchier, Chiara Nyffeler, Stephen Bruce, et al.
Nutrients
|
August 14, 2019
Validation of a Food Frequency Questionnaire to Assess Intake of <i>n-3</i> Polyunsaturated Fatty Acids in Switzerland
Isabelle Herter-Aeberli, Celeste Graf, Anna Vollenweider, et al.
Journal of Inherited Metabolic Disease
|
October 13, 2022
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy
Lisa M Crowther, Martin Poms, Martina Zandl-Lang, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2020
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, et al.
Cells
|
February 23, 2024
Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass
Anja Levis, Markus Huber, Déborah Mathis, et al.
JIMD Reports
|
March 6, 2024
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, et al.
Journal of Innate Immunity
|
April 20, 2026
Insights into neutrophil dysfunction in inherited metabolic disorders
Anja Wolf, Giulia Montanelli, Déborah Mathis, et al.
Clinical Biochemistry
|
March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases
Glynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.
Molecular Genetics and Metabolism Reports
|
March 1, 2024
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, et al.
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Search research articles
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Showing results (11-20 of 26) with videos related to
Sort By:
Page
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American Journal of Physiology. Renal Physiology
|
January 18, 2021
Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney
Sophia N Verouti, Delphine Lambert, Déborah Mathis, et al.
Clinical Biochemistry
|
November 15, 2025
Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates
Kaitlyn Berchier, Chiara Nyffeler, Stephen Bruce, et al.
Nutrients
|
August 14, 2019
Validation of a Food Frequency Questionnaire to Assess Intake of <i>n-3</i> Polyunsaturated Fatty Acids in Switzerland
Isabelle Herter-Aeberli, Celeste Graf, Anna Vollenweider, et al.
Journal of Inherited Metabolic Disease
|
October 13, 2022
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy
Lisa M Crowther, Martin Poms, Martina Zandl-Lang, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2020
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, et al.
Cells
|
February 23, 2024
Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass
Anja Levis, Markus Huber, Déborah Mathis, et al.
JIMD Reports
|
March 6, 2024
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, et al.
Journal of Innate Immunity
|
April 20, 2026
Insights into neutrophil dysfunction in inherited metabolic disorders
Anja Wolf, Giulia Montanelli, Déborah Mathis, et al.
Clinical Biochemistry
|
March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases
Glynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.
Molecular Genetics and Metabolism Reports
|
March 1, 2024
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, et al.
Page
of 3