Associated Papers
How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.
Kochan Z et al.
International Journal of Molecular Sciences, 2025
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF et al.
Molecular Genetics and Metabolism Reports, 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
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
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 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
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review.
Rakheja D et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002
Select a paper to view details