Associated Papers
Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.
Urzì C et al.
Journal of Inherited Metabolic Disease, 2025
Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.
Koch J et al.
Molecular Genetics and Metabolism, 2024
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Mathis D et al.
Molecular Genetics and Metabolism Reports, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.
Meyer C et al.
Journal of Inherited Metabolic Disease, 2024
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC et al.
Molecular Genetics and Metabolism Reports, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK et al.
Nutrients, 2022
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Ticci C et al.
Clinical Genetics, 2022
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B et al.
International Journal of Molecular Sciences, 2022
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency.
Laemmle A et al.
Molecular Genetics and Metabolism Reports, 2021
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S et al.
American Journal of Human Genetics, 2017
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