Myopathies due to defects in the beta oxidation of fatty acids. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency/mitochondrial trifunctional protein deficiency LCHADD/TFP an entity with specific treatment
Source: Neurologia Argentina
Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing
Source: Muscle and Nerve
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector
Source: Investigative ophthalmology & visual science
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Source: Genetics in Medicine
Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases
Source: Case Reports in Ophthalmology
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