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Molecular Genetics and Metabolism Reports
|
December 13, 2021
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, et al.
Journal of Inherited Metabolic Disease
|
February 16, 2019
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency
Lisa M Crowther, Déborah Mathis, Martin Poms, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2020
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies
Déborah Mathis, Karin Beese, Carmen Rüegg, et al.
Journal of Inherited Metabolic Disease
|
September 5, 2024
Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study
Christian Urzì, Christoph Meyer, Déborah Mathis, et al.
Diabetologia
|
July 8, 2025
Dapagliflozin's impact on hormonal regulation and ketogenesis in type 1 diabetes: a randomised controlled crossover trial
Andreas Gübeli, Nicole Steiner, Andreas Limacher, et al.
Genes
|
October 27, 2022
<i>ACADM</i> Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Matthias Christen, Jos Bongers, Déborah Mathis, et al.
JIMD Reports
|
March 17, 2021
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (<i>Mut</i>-ko/ki) of methylmalonic aciduria
Marie Lucienne, Déborah Mathis, Nathan Perkins, et al.
Journal of the American Chemical Society
|
May 30, 2008
Artificial metalloenzyme for enantioselective sulfoxidation based on vanadyl-loaded streptavidin
Anca Pordea, Marc Creus, Jaroslaw Panek, et al.
Journal of Inherited Metabolic Disease
|
May 13, 2022
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
Déborah Mathis, Joanne Croft, Petr Chrastina, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 8, 2016
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, et al.
Page
of 3
Search research articles
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Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
Molecular Genetics and Metabolism Reports
|
December 13, 2021
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, et al.
Journal of Inherited Metabolic Disease
|
February 16, 2019
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency
Lisa M Crowther, Déborah Mathis, Martin Poms, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2020
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies
Déborah Mathis, Karin Beese, Carmen Rüegg, et al.
Journal of Inherited Metabolic Disease
|
September 5, 2024
Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study
Christian Urzì, Christoph Meyer, Déborah Mathis, et al.
Diabetologia
|
July 8, 2025
Dapagliflozin's impact on hormonal regulation and ketogenesis in type 1 diabetes: a randomised controlled crossover trial
Andreas Gübeli, Nicole Steiner, Andreas Limacher, et al.
Genes
|
October 27, 2022
<i>ACADM</i> Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Matthias Christen, Jos Bongers, Déborah Mathis, et al.
JIMD Reports
|
March 17, 2021
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (<i>Mut</i>-ko/ki) of methylmalonic aciduria
Marie Lucienne, Déborah Mathis, Nathan Perkins, et al.
Journal of the American Chemical Society
|
May 30, 2008
Artificial metalloenzyme for enantioselective sulfoxidation based on vanadyl-loaded streptavidin
Anca Pordea, Marc Creus, Jaroslaw Panek, et al.
Journal of Inherited Metabolic Disease
|
May 13, 2022
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
Déborah Mathis, Joanne Croft, Petr Chrastina, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 8, 2016
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, et al.
Page
of 3