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
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
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U et al.
Annals of Clinical and Translational Neurology, 2024
Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in HADHA Gene.
Abedidoust S et al.
Iranian Journal of Pathology, 2024
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.
Salman DO et al.
Frontiers in Genetics, 2022
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert SC et al.
Journal of Inherited Metabolic Disease, 2021
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
Khani M et al.
Journal of Neurology, 2021
Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.
Guan Y et al.
Frontiers in Neurology, 2021
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