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Genotype-phenotype correlations in ornithine transcarbamylase deficiency: a mutation update

M.EggersdorferM.FrankJ.et al (2017)

Key regulatory axesincluding HIF-1, HHIP-PKM2, PTGES-AKT-HIF-1, and lactate/LDH-A (LDH5)-TGF-interact to collectively promote enhanced glycolysis and diminished oxidative metabolism, sustaining the pathological phenotype of the disease (8082)