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
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U et al.
Annals of Clinical and Translational Neurology, 2024
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
Srivastava P et al.
Frontiers in Genetics, 2023
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert SC et al.
Journal of Inherited Metabolic Disease, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Rigaudière F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces.
Navío D et al.
International Journal of Molecular Sciences, 2019
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