Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 153 publications
Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.
Journal: Investigative ophthalmology & visual science
Published: September 24, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.
Journal: Journal of child neurology
Published: August 18, 2025
A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.
Journal: Expert review of clinical pharmacology
Published: July 09, 2025
LCHADD-associated chorioretinopathy (case study)
Journal: Vestnik oftalmologii
Published: July 01, 2025
Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.
Journal: Journal of the peripheral nervous system : JPNS
Published: May 11, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).
Journal: Journal of inherited metabolic disease
Published: March 24, 2025
Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.
Journal: Archivos de la Sociedad Espanola de Oftalmologia
Published: January 09, 2025
Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.
Journal: Cardiology in the young
Published: January 09, 2025
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.
Journal: Investigative ophthalmology & visual science
Published: September 16, 2024
Cardiomyopathy in a c.1528G>C Hadha mouse is associated with cardiac tissue lipotoxicity and altered cardiolipin species.
Journal: Journal of lipid research
Published: June 11, 2024
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Journal: American journal of medical genetics. Part A
Published: June 02, 2024
Last Updated: 10/31/2025