Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U et al.
Annals of Clinical and Translational Neurology, 2024
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
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Wongkittichote P et al.
Jimd Reports, 2020
Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders.
McCoin CS et al.
Physiological Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Lefort B et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Fletcher AL et al.
Molecular Genetics and Metabolism, 2012
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Gillingham MB et al.
Molecular Genetics and Metabolism, 2003
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.
Gillingham MB et al.
Molecular Genetics and Metabolism, 0
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