Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders
Source: International Journal of Neonatal Screening
A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review
Source: Children
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
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