Associated Papers
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E et al.
Jci Insight, 2024
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A et al.
Molecular Genetics and Metabolism, 2011
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Spiekerkoetter U et al.
Human Mutation, 2003
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