• A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy
• A gene therapy targeting medium-chain acyl-CoA dehydrogenase (MCAD) did not protect against diabetes-induced cardiac pathology
• A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart
• A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature
• A useful method to diagnose Pearson syndrome mimicking Diamond-Blackfan anemia
• Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
• Acute reversible rhabdomyolysis during direct-acting antiviral hepatitis C virus treatment: a case report
• Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study
• Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism
• Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency
• Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome
• B-cell Immunodeficiency in a Patient with Pearson Syndrome
• Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency
• Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
• Biochemical phenotyping of paroxysmal nocturnal hemoglobinuria reveals solute carriers and β-oxidation deficiencies
• Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride
• Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders
• Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
• CircPDHX promotes prostate cancer cell progression in vitro and tumor growth in vivo via miR-497-5p/ACSL1 axis
• Clinical and genetic features of four patients with Pearson syndrome: An observational study
• Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to <em>ETFDH</em> Mutations in Five Patients: A Case Series
• Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency
• Conduction defects in pediatric patients with Pearson syndrome: When to pace?
• Cysteine-Rich LIM-Only Protein 4 (CRP4) Promotes Atherogenesis in the ApoE^-/- Mouse Model
• De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans
• Defects in Very Long-Chain Fatty Acid Oxidation Presenting as Different Types of Cardiomyopathy
• Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome
• Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
• Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD
• Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency
• Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation
• Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency
• Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency
• Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants
• Haematological characteristics and spontaneous haematological recovery in Pearson syndrome
• Heptanoate Improves Compensatory Mechanism of Glucose Homeostasis in Mitochondrial Long-Chain Fatty Acid Oxidation Defect
• Honokiol attenuates lipotoxicity in hepatocytes via activating SIRT3-AMPK mediated lipophagy
• Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients
• Hypotonia and Poor Weight Gain in a 4-month-old Girl
• Identification of Genetic Effects of <em>ACADVL</em> and <em>IRF6</em> Genes with Milk Production Traits of Holstein Cattle in China
• Immunometabolic Profiling of Chronic Subdural Hematoma through Untargeted Mass Spectrometry Analysis: Preliminary Findings of a Novel Approach
• Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
• ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction
• Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the <em>ACADVL</em> Gene
• Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
• Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
• Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study
• Metabolic disease in the Pacific: Lessons for indigenous populations
• Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma
• Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts
• Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening
• Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia
• Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
• Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection
• Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
• New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• New Inborn Errors of Metabolism added in the French program of neonatal screening
• No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial
• Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency
• Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach
• Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency
• Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic
• Pancytopenia and haematopoietic precursor vacuolisation in an infant: Clues to Pearson syndrome
• Pearson syndrome
• Pearson syndrome in a child transplanted for Diamond-Blackfan anemia
• Pearson syndrome-like anemia induced by accumulation of mutant mtDNA and anemia with imbalanced white blood cell lineages induced by Drp1 deletion in a murine model
• Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
• Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes
• Perioperative anesthetic management of very long-chain acyl-coenzyme a dehydrogenase deficiency
• Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
• Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolites
• Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province
• Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children
• Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome
• Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via ¹³C-fatty acid loading test
• Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
• Sportmedizinische Beratung nach akuter Rhabdomyolyse bei erblicher Myopathie – eine herausfordernde Leistungsdiagnostik
• Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency
• Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome
• Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
• Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model
• Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency
• The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience
• The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13
• The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
• The KLF7/PFKL/ACADL axis modulates cardiac metabolic remodelling during cardiac hypertrophy in male mice
• The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency
• The Role and Mechanism of CREBH Regulating SIRT3 in Metabolic Associated Fatty Liver Disease
• Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
• Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report
• Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
• Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
• Validation of a targeted metabolomics panel for improved second-tier newborn screening
• Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges
• Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics
• Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis
• VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT
• Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
• Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest
• Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review