Associated Papers
Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.
Politei J et al.
Lipids, 2025
How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.
Kochan Z et al.
International Journal of Molecular Sciences, 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
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
Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Wongchaisuwat N et al.
American Journal of Ophthalmology Case Reports, 2023
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Gaston G et al.
Communications Biology, 2023
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
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
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Boese EA et al.
Ophthalmology, 2016
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
Strandqvist A et al.
Jimd Reports, 2016
The investigation and management of metabolic myopathies.
Olpin SE et al.
Journal of Clinical Pathology, 2015
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Haglind CB et al.
Journal of Inherited Metabolic Disease, 2015
Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease.
Raghupathy V et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2014
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
Tonin AM et al.
Journal of Bioenergetics and Biomembranes, 2013
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Waisbren SE et al.
Developmental Disabilities Research Reviews, 2013
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Fletcher AL et al.
Molecular Genetics and Metabolism, 2012
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
Violante S et al.
Biochimica Et Biophysica Acta, 2010
Disturbance of mitochondrial energy homeostasis caused by the metabolites accumulating in LCHAD and MTP deficiencies in rat brain.
Tonin AM et al.
Life Sciences, 2010
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.
Gillingham MB et al.
Topics in Clinical Nutrition, 2009
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Olpin SE et al.
Journal of Inherited Metabolic Disease, 2005
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Gillingham MB et al.
Molecular Genetics and Metabolism, 2003
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Russell-Eggitt IM et al.
Ophthalmic Genetics, 2003
Treatment of carnitine deficiency.
Winter SC
Journal of Inherited Metabolic Disease, 2003
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.
Tyni T et al.
Pediatric Research, 2002
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Harding CO et al.
Journal of Inherited Metabolic Disease, 1999
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Tyni T et al.
Ophthalmology, 1998
Screening for the trifunctional protein G1528C mutation in alcoholic liver disease.
Eaton S et al.
Biochemical Society Transactions, 1998
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
Tyni T et al.
The Journal of Pediatrics, 1997
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation.
Tyni T et al.
Neuromuscular Disorders : Nmd, 1996
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
Van Maldergem L et al.
European Journal of Pediatrics, 0
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
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor.
Sturm V
European Journal of Ophthalmology, 0
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.
Hickmann FH et al.
Biochimica Et Biophysica Acta, 0
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
Elizondo G et al.
Molecular Genetics and Metabolism, 0
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
Tyni T et al.
Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated With the International Paediatric Pathology Association, 0