Associated Papers
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E et al.
Jci Insight, 2024
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2022
A Rare Presentation of Cardiomyopathy in Pregnancy.
Donald E et al.
Jacc. Case Reports, 2020
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
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