Associated Papers
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF et al.
Molecular Genetics and Metabolism Reports, 2022
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
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Olpin SE et al.
Journal of Inherited Metabolic Disease, 2005
Select a paper to view details