Associated Papers
Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mouse model.
Elizondo G et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2026
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
Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.
Varotsis D et al.
O&g Open, 2026
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)-Associated Ocular Pathology-A Narrative Review.
Hubert M et al.
Diagnostics (basel, Switzerland), 2026
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.
Vieira Neto E et al.
Journal of Inherited Metabolic Disease, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.
Politei J et al.
Lipids, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.
Passadouro AS et al.
Embo Molecular Medicine, 2025
Disrupting mitochondrial β-oxidation by depletion of HADHA impairs primary ciliogenesis.
Kim JB et al.
Scientific Reports, 2025
How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.
Kochan Z et al.
International Journal of Molecular Sciences, 2025
The Hidden Metabolic Threat: A Case of Fatty Acid Oxidation Disorder Masquerading as Viral Myocarditis.
Ben Turkia H et al.
Cureus, 2025
Long-term follow-up of eight patients with long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Hubert M et al.
Acta Ophthalmologica, 2025
Macular Neovascularization in Pediatric Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Retrospective Analysis of a Case Series.
Hubert M et al.
Journal of Clinical Medicine, 2025
Characterizing fatty acid oxidation genes in Drosophila.
Geronazzo J et al.
G3 (bethesda, Md.), 2025
Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.
Castro Casal N et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2025
Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.
Chase CL et al.
Journal of the Endocrine Society, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).
Chung H et al.
Journal of Inherited Metabolic Disease, 2025
Cardiomyopathy in a c.1528G>C Hadha mouse is associated with cardiac tissue lipotoxicity and altered cardiolipin species.
Eke C et al.
Journal of Lipid Research, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review.
Maines E et al.
Children (basel, Switzerland), 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.
Drole Torkar A et al.
International Journal of Neonatal Screening, 2025
Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.
Verberk SGS et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
CALHM2 is a mitochondrial protein import channel that regulates fatty acid metabolism.
Jonas E et al.
Research Square, 2024
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E et al.
Jci Insight, 2024
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.
DeVine T et al.
Investigative Ophthalmology & Visual Science, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 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
The LCHADD Mouse Model Recapitulates Early-Stage Chorioretinopathy in LCHADD Patients.
Babcock SJ et al.
Investigative Ophthalmology & Visual Science, 2024
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
Elizondo G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.
Bilgin H et al.
Molecular Genetics and Metabolism Reports, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U et al.
Annals of Clinical and Translational Neurology, 2024
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N et al.
Ophthalmic Genetics, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024