Disease on EC 1.3.8.1 - short-chain acyl-CoA dehydrogenase
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acetyl-coa c-acyltransferase deficiency
Clinical and biochemical features of fatty acid oxidation disorders.
acetyl-coa c-acyltransferase deficiency
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
acetyl-coa c-acyltransferase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Acidosis, Lactic
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Acidosis, Lactic
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.
acyl-coa dehydrogenase deficiency
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
acyl-coa dehydrogenase deficiency
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
acyl-coa dehydrogenase deficiency
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport.
acyl-coa dehydrogenase deficiency
Ethylmalonic Acid Induces Permeability Transition in Isolated Brain Mitochondria.
acyl-coa dehydrogenase deficiency
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
acyl-coa dehydrogenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
acyl-coa dehydrogenase deficiency
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
acyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
acyl-coa dehydrogenase deficiency
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.
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.
acyl-coa dehydrogenase deficiency
Perioperative management of a patient with short chain acyl-CoA dehydrogenase deficiency: a case report.
acyl-coa dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver.
acyl-coa dehydrogenase deficiency
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
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.
Brain Diseases
Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit.
Brain Diseases
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport.
Brain Diseases
Ethylmalonic Acid Induces Permeability Transition in Isolated Brain Mitochondria.
Brain Diseases
Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex.
Brain Diseases
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Brain Diseases
Inhibition of the Electron Transport Chain and Creatine Kinase Activity by Ethylmalonic Acid in Human Skeletal Muscle.
Brain Diseases
Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle.
Brain Diseases
Promotion of Lipid and Protein Oxidative Damage in Rat Brain by Ethylmalonic Acid.
Brain Diseases
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.
Carcinoma, Hepatocellular
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.
Cardiomegaly
Changes in short-chain acyl-coA dehydrogenase during rat cardiac development and stress.
Cardiomegaly
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.
carnitine o-palmitoyltransferase deficiency
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.
carnitine o-palmitoyltransferase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
carnitine o-palmitoyltransferase deficiency
[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.
Citrullinemia
[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 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.
Epilepsy
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Epilepsy
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].
Homocystinuria
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Homocystinuria
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Homocystinuria
[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.
Insulin Resistance
Deficiency in the short-chain acyl-CoA dehydrogenase protects mice against diet-induced obesity and insulin resistance.
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.
long-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.
long-chain acyl-coa dehydrogenase deficiency
[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.
Maple Syrup Urine Disease
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
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.
Maple Syrup Urine Disease
[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).
medium-chain acyl-coa dehydrogenase deficiency
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
medium-chain acyl-coa dehydrogenase deficiency
Evidence for intermediate channeling in mitochondrial beta-oxidation.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
medium-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.
medium-chain acyl-coa dehydrogenase deficiency
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.
medium-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
medium-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-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].
Metabolic Diseases
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer.
Metabolism, Inborn Errors
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
Metabolism, Inborn Errors
[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).
methylcrotonoyl-coa carboxylase deficiency
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylcrotonoyl-coa carboxylase deficiency
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.
methylcrotonoyl-coa carboxylase deficiency
[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.
Mitochondrial Diseases
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.
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).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[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.
Multiple Carboxylase Deficiency
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.
Muscular Diseases
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Muscular Diseases
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
Muscular Diseases
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.
Neoplasms
Integrated Proteomics and Bioinformatics to Identify Potential Prognostic Biomarkers in Hepatocellular Carcinoma.
Neoplasms
Intestinal Inflammation Modulates the Epithelial Response to Butyrate in Patients With Inflammatory Bowel Disease.
Neoplasms
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.
Neurologic Manifestations
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.
Obesity
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.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
ornithine carbamoyltransferase deficiency
[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.
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
peptidyl-glutamate 4-carboxylase deficiency
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
peptidyl-glutamate 4-carboxylase deficiency
[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.
Phenylketonurias
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Phenylketonurias
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Phenylketonurias
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Phenylketonurias
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Phenylketonurias
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Phenylketonurias
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).
Propionic Acidemia
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Propionic Acidemia
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.
Propionic Acidemia
[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.
Pulmonary Disease, Chronic Obstructive
Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
Pulmonary Disease, Chronic Obstructive
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.
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).
short-chain 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.
short-chain acyl-coa dehydrogenase deficiency
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
short-chain acyl-coa dehydrogenase deficiency
A murine model for short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
short-chain acyl-coa dehydrogenase deficiency
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
short-chain acyl-coa dehydrogenase deficiency
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.
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.
short-chain acyl-coa dehydrogenase deficiency
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain AcylCoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.
short-chain acyl-coa dehydrogenase deficiency
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
short-chain acyl-coa dehydrogenase deficiency
Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration.
short-chain acyl-coa dehydrogenase deficiency
Brain malformation and infantile spasms in a SCAD deficiency patient.
short-chain acyl-coa dehydrogenase deficiency
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.
short-chain acyl-coa dehydrogenase deficiency
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
short-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
short-chain acyl-coa dehydrogenase deficiency
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
short-chain acyl-coa dehydrogenase deficiency
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport.
short-chain acyl-coa dehydrogenase deficiency
Ethylmalonic Acid Induces Permeability Transition in Isolated Brain Mitochondria.
short-chain acyl-coa dehydrogenase deficiency
Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex.
short-chain acyl-coa dehydrogenase deficiency
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
short-chain acyl-coa dehydrogenase deficiency
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
short-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
short-chain acyl-coa dehydrogenase deficiency
Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
short-chain acyl-coa dehydrogenase deficiency
First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
short-chain acyl-coa dehydrogenase deficiency
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
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.
short-chain acyl-coa dehydrogenase deficiency
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies.
short-chain acyl-coa dehydrogenase deficiency
Genetic characteristics and follow-up of patients with fatty acid ?-oxidation disorders through expanded newborn screening in a Northern Chinese population.
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center.
short-chain acyl-coa dehydrogenase deficiency
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
short-chain acyl-coa dehydrogenase deficiency
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
short-chain acyl-coa dehydrogenase deficiency
Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats.
short-chain acyl-coa dehydrogenase deficiency
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress.
short-chain acyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
short-chain acyl-coa dehydrogenase deficiency
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.
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.
short-chain acyl-coa dehydrogenase deficiency
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
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.
short-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
short-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
short-chain acyl-coa dehydrogenase deficiency
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
short-chain acyl-coa dehydrogenase deficiency
Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice.
short-chain acyl-coa dehydrogenase deficiency
Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency.
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
Perioperative management of a pediatric patient with short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
short-chain acyl-coa dehydrogenase deficiency
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
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.
short-chain acyl-coa dehydrogenase deficiency
Severe infantile hypotonia with ethylmalonic aciduria: case report.
short-chain acyl-coa dehydrogenase deficiency
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
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
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
short-chain acyl-coa dehydrogenase deficiency
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.
short-chain acyl-coa dehydrogenase deficiency
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.
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
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
short-chain acyl-coa dehydrogenase deficiency
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
short-chain acyl-coa dehydrogenase deficiency
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
short-chain acyl-coa dehydrogenase deficiency
Short-chain acyl-coenzyme A dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
The role of methionine in ethylmalonic encephalopathy with petechiae.
short-chain acyl-coa dehydrogenase deficiency
Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
short-chain acyl-coa dehydrogenase deficiency
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
short-chain acyl-coa dehydrogenase deficiency
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
short-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
short-chain acyl-coa dehydrogenase deficiency
[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]
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
[Short-chain acyl-CoA dehydrogenase deficiency]
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].
Starvation
Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation.
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.
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