Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

Caregivers' Emotional Responses Triggered by a False-Positive VLCADD in Newborn Screening in Oita Prefecture.

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.

Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.

C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism.

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss.

Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics.

A Review of Newborn Screening for VLCADD: The Wisconsin Experience.

Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.

The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Mechanistic insights into impaired β-oxidation and its role in mitochondrial dysfunction: A comprehensive review.

Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.

Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Dental Implications of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Comprehensive Case Report and Literature Review.

[Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.

Late-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient.

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.

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.

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.

Anesthetic Management and Neuromonitoring in a Patient with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Undergoing Scoliosis Surgery: A Case Report and Review of Literature.

Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders.

[Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review].

Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.

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.

[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.

Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.

Validation of a targeted metabolomics panel for improved second-tier newborn screening.

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.

Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency.

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.

Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis.

Defects in Very Long-Chain Fatty Acid Oxidation Presenting as Different Types of Cardiomyopathy.

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.

Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.

Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.

Acute reversible rhabdomyolysis during direct-acting antiviral hepatitis C virus treatment: a case report.

Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

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.

Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.

Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.

Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).

Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.

[New Inborn Errors of Metabolism added in the French program of neonatal screening].

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.

Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.

Exploring urine biomarkers of early health effects for occupational exposure to titanium dioxide nanoparticles using metabolomics.

Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride.

VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.

Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].

Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.

Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.

Reducing False-Positive Results in Newborn Screening Using Machine Learning.

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.

Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity.

Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency.

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Fatty liver in a two days old neonate.

New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.

The fate of medium-chain fatty acids in very long-chain acyl‑CoA dehydrogenase deficiency (VLCADD): A matter of sex?

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.

AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.

[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection.

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.

Two Novel Missense Mutations in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.

Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.

Rhabdomyolysis with different etiologies in childhood.

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.

Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.

Substrate kinetics in patients with disorders of skeletal muscle metabolism.

Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.

Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

De novo fatty acid biosynthesis and elongation in very long-chain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids.

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management.