Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

Biochemistry, Genetics and Molecular Biology

• Coenzyme A 100%
• Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 100%
• Fibroblast 75%
• Oxidoreductase 75%
• Dehydrogenase 75%
• Mass Spectrometry 25%
• Metabolite 25%
• Electron Transport 25%
• Metabolic Pathway 25%
• Infancy 25%
• Gas Chromatography 25%
• Beta Oxidation 25%
• Flavoprotein 25%
• Newborn Period 25%
• Ketogenesis 25%

Keyphrases

• Clinical Characterization 100%
• Acyl-coenzyme A 100%
• Dehydrogenase Deficiency 100%
• Neurological Abnormalities 40%
• Radiolabeled Substrates 40%
• Cultured Skin 20%
• Acylglycines 20%
• Urine Organic Acid 20%
• Fatty Acid Oxidation Defects 20%
• L-carnitine 20%
• Enzymatic Deficiency 20%
• Ethylmalonic Acid 20%
• Characteristic Metabolites 20%
• Neonatal Period 20%

Pharmacology, Toxicology and Pharmaceutical Science

• Butyryl Coenzyme A Dehydrogenase 100%
• Epileptic Absence 33%
• Disease 33%
• Fatty Acid 33%
• Carboxylate 33%
• Metabolic Acidosis 33%
• Hypoglycemia 33%
• Acyl-CoA 33%
• Electron Transferring Flavoprotein 33%
• Muscle Hypotonia 33%
• Medium Chain Acyl Coenzyme A Dehydrogenase 33%
• Acidemia 33%
• Acylcarnitine 33%
• Muscle Hypertonia 33%