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Disease on EC 1.3.8.1 - short-chain acyl-CoA dehydrogenase and Organism(s) Homo sapiens

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DISEASE
TITLE OF PUBLICATION
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acetyl-coa c-acyltransferase deficiency
Clinical and biochemical features of fatty acid oxidation disorders.
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Acidosis
Reveal genes functionally associated with ACADS by a network study.
Acidosis, Lactic
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
acyl-coa dehydrogenase deficiency
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport.
Ethylmalonic Acid Induces Permeability Transition in Isolated Brain Mitochondria.
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.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Molecular cloning and nucleotide sequence of cDNAs encoding human short chain acyl-CoA dehydrogenase and study of the molecular basis of human short chain acyl-CoA dehydrogenase deficiency.
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.
Perioperative management of a patient with short chain acyl-CoA dehydrogenase deficiency: a case report.
Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver.
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Short chain acyl-CoA dehydrogenase deficiency]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Adrenoleukodystrophy
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Agranulocytosis
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.
Anemia, Pernicious
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.
Biotinidase Deficiency
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Brain Diseases
Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration.
Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit.
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.
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Inhibition of the Electron Transport Chain and Creatine Kinase Activity by Ethylmalonic Acid in Human Skeletal Muscle.
Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle.
Promotion of Lipid and Protein Oxidative Damage in Rat Brain by Ethylmalonic Acid.
The role of methionine in ethylmalonic encephalopathy with petechiae.
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
Canavan Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Carcinoma, Hepatocellular
ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
Role of peroxisome proliferator-activated receptor alpha in the expression of hepatic fatty acid oxidation-related genes in chickens.
Cardiomegaly
Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice.
Changes in short-chain acyl-coA dehydrogenase during rat cardiac development and stress.
Effects of short-chain acyl-CoA dehydrogenase on cardiomyocyte apoptosis.
Flavine adenine dinucleotide inhibits pathological cardiac hypertrophy and fibrosis through activating short chain acyl-CoA dehydrogenase.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Cholestasis, Intrahepatic
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Citrullinemia
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Cleft Palate
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Colitis, Ulcerative
Sulphide impairment of substrate oxidation in rat colonocytes: a biochemical basis for ulcerative colitis?
Cystic Fibrosis
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.
Diabetes Insipidus, Neurogenic
Protein misfolding and human disease.
Diabetes Mellitus, Type 2
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.
Epilepsy
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.
Fatty Liver
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Fetal Growth Retardation
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Friedreich Ataxia
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Heart Failure
[Change of short-chain acyl-CoA dehydrogenase in heart failure after myocardial infarction in rats and the intervention of aerobic exercise].
Hepatic Encephalopathy
Reveal genes functionally associated with ACADS by a network study.
Homocystinuria
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa synthase deficiency
Clinical and biochemical features of fatty acid oxidation disorders.
Hyperargininemia
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Hyperglycinemia, Nonketotic
Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center.
Hypertrophy, Left Ventricular
Proteomic analysis of hypertrophied myocardial protein patterns in renovascularly hypertensive and spontaneously hypertensive rats.
Hypoglycemia
Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center.
Infections
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Insulin Resistance
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.
Deficiency in the short-chain acyl-CoA dehydrogenase protects mice against diet-induced obesity and insulin resistance.
Ketosis
Reveal genes functionally associated with ACADS by a network study.
Lipidoses
Cloning and characterization of a human cDNA ACAD10 mapped to chromosome 12q24.1.
long-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Maple Syrup Urine Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Evidence for intermediate channeling in mitochondrial beta-oxidation.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Metabolic Diseases
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer.
[Neonatal screening for metabolic diseases: need for efficacy studies]
Metabolism, Inborn Errors
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
[Study of the inborn errors of mitochondrial fatty acid beta-oridation deficiency.]
methylcrotonoyl-coa carboxylase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Mevalonate Kinase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Microcephaly
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Mitochondrial Diseases
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.
Compound heterozygous mutations of
Mucopolysaccharidoses
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Mucopolysaccharidosis I
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Muscle Hypotonia
Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
Muscle Weakness
Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.
Myopathies caused by disorders of lipid metabolism.
Muscular Diseases
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Reveal genes functionally associated with ACADS by a network study.
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
Myocardial Infarction
[Change of short-chain acyl-CoA dehydrogenase in heart failure after myocardial infarction in rats and the intervention of aerobic exercise].
Neoplasm Metastasis
ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
Neoplasms
ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
Integrated Proteomics and Bioinformatics to Identify Potential Prognostic Biomarkers in Hepatocellular Carcinoma.
Intestinal Inflammation Modulates the Epithelial Response to Butyrate in Patients With Inflammatory Bowel Disease.
Linking Gamma-H2AX Foci and Cancer in Rat Skin Exposed to Heavy Ions and Electron Radiation.
Neurologic Manifestations
Bilateral dissection of the internal carotid artery at the base of the skull due to blunt trauma: incidence and severity.
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
Obesity
Deficiency in the short-chain acyl-CoA dehydrogenase protects mice against diet-induced obesity and insulin resistance.
Differential representation of liver proteins in obese human subjects suggests novel biomarkers and promising targets for drug development in obesity.
Ophthalmoplegia
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
Optic Atrophy, Hereditary, Leber
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Optic Nerve Diseases
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
ornithine carbamoyltransferase deficiency
Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Ornithine Carbamoyltransferase Deficiency Disease
Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Parkinson Disease
Protein misfolding and human disease.
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
phenylalanine 4-monooxygenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Phenylketonurias
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
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.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Protein misfolding and human disease.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Prader-Willi Syndrome
Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
Propionic Acidemia
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Proteostasis Deficiencies
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
Protein misfolding and human disease.
Pulmonary Disease, Chronic Obstructive
Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
Prediction of new targets and mechanisms for quercetin in the treatment of pancreatic cancer, colon cancer, and rectal cancer.
Respiratory Tract Infections
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Reye Syndrome
Reveal genes functionally associated with ACADS by a network study.
Riboflavin Deficiency
Riboflavin deficiency in cultured rat hepatoma cells: a model for studying the hepatic effects of riboflavin deficiency.
Scoliosis
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain acyl-coa dehydrogenase deficiency
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
A murine model for short-chain acyl-CoA dehydrogenase deficiency.
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency.
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
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.
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.
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.
Brain malformation and infantile spasms in a SCAD deficiency patient.
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
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 and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
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 genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
Compound heterozygous mutations of
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.
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 newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
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.
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
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.
Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies.
Genetic characteristics and follow-up of patients with fatty acid ?-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.
Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center.
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
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.
Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats.
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency.
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Molecular cloning and nucleotide sequence of cDNAs encoding human short chain acyl-CoA dehydrogenase and study of the molecular basis of human 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.
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.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice.
Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency.
Perioperative management of a patient with short chain acyl-CoA dehydrogenase deficiency: a case report.
Perioperative management of a pediatric patient with short-chain acyl-CoA dehydrogenase deficiency.
Protein misfolding and human disease.
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Severe infantile hypotonia with ethylmalonic aciduria: case report.
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 (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.
Short-chain acyl-CoA dehydrogenase deficiency.
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
Short-chain acyl-coenzyme A dehydrogenase deficiency.
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
The role of methionine in ethylmalonic encephalopathy with petechiae.
Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency.
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.
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Short chain acyl-CoA dehydrogenase deficiency]
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]
[Short-chain acyl-CoA dehydrogenase deficiency]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Spasms, Infantile
Brain malformation and infantile spasms in a SCAD deficiency patient.
Starvation
Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation.
Disruption of putative short-chain acyl-CoA dehydrogenases compromised free radical scavenging, conidiogenesis, and pathogenesis of Magnaporthe oryzae.
Thyroiditis, Autoimmune
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.
Tuberculosis
Mycobacterium tuberculosis utilizes a unique heterotetrameric structure for dehydrogenation of the cholesterol side chain.
Tyrosinemias
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Urea Cycle Disorders, Inborn
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Vitiligo
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.