Disease: Short chain Acyl CoA dehydrogenase deficiency
- A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
- A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism
- 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 <em>ACAT1</em> Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis
- A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis
- A short-chain acyl-CoA synthetase that supports branched-chain fatty acid synthesis in Staphylococcus aureus
- Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
- Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency
- An incidental finding in newborn screening leading to the diagnosis of a patient with <em>ECHS1</em> mutations
- An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia
- Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening
- Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
- Aspects of Newborn Screening in Isovaleric Acidemia
- Biochemical phenotyping of paroxysmal nocturnal hemoglobinuria reveals solute carriers and β-oxidation deficiencies
- Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
- Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration
- Central nervous system pathology in an infant with short-chain acyl-CoA dehydrogenase deficiency (SCADD): evidence for abnormal neuronal migration as part of its phenotypic spectrum
- Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
- Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing
- Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
- Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening
- Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice
- Compound heterozygous mutations of <em>ACADS</em> gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
- Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
- Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population
- Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China
- Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
- Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
- 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
- Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
- Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease
- Dysregulated Free Fatty Acid Receptor 2 Exacerbates Colonic Adenoma Formation in <em>Apc</em> <sup><em>Min/+</em></sup> Mice: Relation to Metabolism and Gut Microbiota Composition
- Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease
- Effects of riboflavin deficiency on the lipid metabolism of duck breeders and duck embryos
- Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation
- Erratum to: Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency
- Ethylmalonic acid impairs brain mitochondrial succinate and malate transport
- Ethylmalonic acid induces permeability transition in isolated brain mitochondria
- Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
- Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population
- Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population
- First case report of short-chain acyl-CoA dehydrogenase deficiency in China
- Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience
- Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
- Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
- Genotype-based databases for variants causing rare diseases
- Healing of a Chronic Pressure Injury in a Patient Treated With Medical Cannabis for Pain and Sleep Improvement: A Case Report
- Hepatocyte-secreted FAM3D ameliorates hepatic steatosis by activating FPR1-hnRNP U-GR-SCAD pathway to enhance lipid oxidation
- High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood
- HSD10 disease in a female: A case report and review of literature
- Identification of Six Novel Variants of <em>ACAD8</em> in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing
- Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran
- Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China
- Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia
- Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study
- Inherited metabolic disorders in Turkish patients with autism spectrum disorders
- Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues
- Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Metabolic heritability at birth: implications for chronic disease research
- Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
- Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency
- Multiplexed LC-MS/MS analysis of methylsuccinic acid, ethylmalonic acid, and glutaric acid in plasma and urine
- Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency
- Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
- Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency
- New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study
- Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies
- Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
- Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency
- Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency
- On the pivotal role of <em>Elovl3</em>/ELOVL3 in meibogenesis and ocular physiology of mice
- Perioperative management of a pediatric patient with short-chain acyl-CoA dehydrogenase deficiency
- Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
- Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency
- Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population
- Quantitation of Butyrylcarnitine, Isobutyrylcarnitine, and Glutarylcarnitine in Urine Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles"
- Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
- Riboflavin ameliorates pathological cardiac hypertrophy and fibrosis through the activation of short-chain acyl-CoA dehydrogenase
- Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province
- Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up
- Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children
- Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt
- Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk
- Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver
- Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms
- Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population
- Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi
- The effect of long-term oral L-carnitine administration on insulin sensitivity, glucose disposal, plasma concentrations of leptin and acylcarnitines, and urinary acylcarnitine excretion in warmblood horses
- Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD<sup>+</sup> in medium-chain acyl-CoA dehydrogenase knockout mice
- Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing
- Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency
- Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency
- Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy
- Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
- Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants