Disease: Pearson syndrome
- A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy
- A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
- A gene therapy targeting medium-chain acyl-CoA dehydrogenase (MCAD) did not protect against diabetes-induced cardiac pathology
- Abnormalities of the Amygdala in schizophrenia: a real world study
- Adrenal Dysfunction in Mitochondrial Diseases
- Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study
- Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome
- Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
- Bioinformatics analysis of the immune cell infiltration characteristics and correlation with crucial diagnostic markers in pulmonary arterial hypertension
- Clinical utility of maximum blink interval measured by smartphone application DryEyeRhythm to support dry eye disease diagnosis
- Conduction defects in pediatric patients with Pearson syndrome: When to pace?
- Congenital sideroblastic anemia with vacuolated bone marrow precursors secondary to SLC25A38 mutation-A great mimicker of Pearson syndrome
- Correlation between hs-CRP, VCAM-1, LEP levels and blood pressure variability in OSAHS patients
- Diagnoses and Outcomes of Patients with Suspicion of Acute Coronary Syndrome and Raised High Sensitive Troponin I: A Single Center Study from Pakistan
- Effects of vitamin D and zinc deficiency in acute and long COVID syndrome
- Electrical Impedance Tomography Identifies Evolution of Regional Perfusion in a Porcine Model of Acute Respiratory Distress Syndrome
- Evaluating construct validity of computable acute respiratory distress syndrome definitions in adults hospitalized with COVID-19: an electronic health records based approach
- Evaluating the clinical utility of speech analysis and machine learning in schizophrenia: A pilot study
- Gastroscopic characterisation and prevalence of gastric ulcer syndrome in working mules in Colombia
- Heptanoate Improves Compensatory Mechanism of Glucose Homeostasis in Mitochondrial Long-Chain Fatty Acid Oxidation Defect
- 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
- 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
- Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing
- Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the <em>ACADVL</em> Gene
- Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
- Maternal pre-pregnancy BMI, offspring epigenome-wide DNA methylation, and childhood obesity: findings from the Boston Birth Cohort
- Mitochondrial DNA Deletion Syndromes
- New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Pancytopenia and haematopoietic precursor vacuolisation in an infant: Clues to Pearson syndrome
- Perioperative anesthetic management of very long-chain acyl-coenzyme a dehydrogenase deficiency
- Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients
- Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
- Predictors of Mortality in Extracorporeal Membrane Oxygenation Support Patients Following Major Trauma
- Predictors of post traumatic growth in allogeneic hematopoietic stem cell transplantation survivors: a cross-sectional survey
- 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
- Ring sideroblasts and macrocytic anemia in an infant: Clues to the diagnosis of Pearson syndrome
- Role of Traumatic Events and Motivational Structure in Ambiguity Tolerance of Irritable Bowel Syndrome
- SARS-CoV-2 utilization of ACE2 from different bat species allows for virus entry and replication in vitro
- Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome
- Single Large-Scale Mitochondrial DNA Deletion Syndromes
- Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
- 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
- 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 Influence of MDR1 Expression Regulated by miR-138 through TRPS1 Signaling Pathway on Multidrug Resistance of Osteosarcoma and Formation of Bacterial Infection Biofilm
- Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
- Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges
- 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-Coenzyme A Dehydrogenase Deficiency
- Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review