Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.P149fs
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MDH2

NM_005918.4:p.P149fs

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

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

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Bölsterli BK et al.

Nutrients, 2022

Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency.

Laemmle A et al.

Molecular Genetics and Metabolism Reports, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."