Associated Papers
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.
Balletto G et al.
Journal of Child Neurology, 2026
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E et al.
Jci Insight, 2024
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
Daher RT et al.
Orphanet Journal of Rare Diseases, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB et al.
Journal of Inherited Metabolic Disease, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U et al.
Annals of Clinical and Translational Neurology, 2024
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF et al.
Molecular Genetics and Metabolism Reports, 2022
Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Yang J et al.
Molecular Medicine Reports, 2022
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K et al.
Nutrients, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert SC et al.
Journal of Inherited Metabolic Disease, 2021
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