Associated Papers
Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.
Koch J et al.
Molecular Genetics and Metabolism, 2024
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
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
Select a paper to view details