Fatty Acid Oxidation

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

Pediatrics / Humans / Female / Fatty Acid Oxidation / Infant / The / Peripheral Neuropathy / Fatty Liver / Degeneration / Pregnant Women / Phosphates / Multienzyme complexes / Hypoparathyroidism / The / Peripheral Neuropathy / Fatty Liver / Degeneration / Pregnant Women / Phosphates / Multienzyme complexes / Hypoparathyroidism

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Carnitine palmitoyltransferase I, carnitine palmitoyltransferase II, and Acyl-CoA oxidase activities in atlantic salmon (Salmo salar)

Engineering / Skeletal muscle biology / Lipids / Liver / Fatty acids / Animals / Oxidoreductases / Fatty Acid Oxidation / Temperature / Atlantic Salmon / Enzyme / Myocardium / Isoenzymes / Salmo salar / Fatty Acid / Enzyme activity / Oxidation-Reduction / Muscle Activity / High energy / Animals / Oxidoreductases / Fatty Acid Oxidation / Temperature / Atlantic Salmon / Enzyme / Myocardium / Isoenzymes / Salmo salar / Fatty Acid / Enzyme activity / Oxidation-Reduction / Muscle Activity / High energy

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation

Nursing / Pediatrics / Treatment Outcome / Mitochondria / Pediatric nursing / Adolescent / Liver diseases / High Frequency / Heart Failure / Pregnancy / Humans / Child / Liver Cirrhosis / Liver / Mutation / Female / Male / Hypoglycemia / Fatty Acid Oxidation / Infant / Follow-up studies / Netherlands / Differential Diagnosis / HELLP Syndrome / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Questionnaires / Optometry and Ophthalmology / Public health systems and services research / Survival Rate / Fatty Acid / Health surveys / Multienzyme complexes / Cardiomyopathies / Status Epilepticus / Base Sequence / Human Fibroblasts / Clinical Presentation / Clinical Signs / Antiepileptic Drug / Archivos Argentinos De Pediatria / Brain Damage / Age of Onset / Adolescent / Liver diseases / High Frequency / Heart Failure / Pregnancy / Humans / Child / Liver Cirrhosis / Liver / Mutation / Female / Male / Hypoglycemia / Fatty Acid Oxidation / Infant / Follow-up studies / Netherlands / Differential Diagnosis / HELLP Syndrome / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Questionnaires / Optometry and Ophthalmology / Public health systems and services research / Survival Rate / Fatty Acid / Health surveys / Multienzyme complexes / Cardiomyopathies / Status Epilepticus / Base Sequence / Human Fibroblasts / Clinical Presentation / Clinical Signs / Antiepileptic Drug / Archivos Argentinos De Pediatria / Brain Damage / Age of Onset

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Mitochondria / Humans / Fatty acids / Mutation / Male / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder

Liver diseases / Humans / Male / Hypoglycemia / Fatty Acid Oxidation / Differential Diagnosis / Newborn Infant / L-carnitine / Public health systems and services research / Cardiomyopathies / Differential Diagnosis / Newborn Infant / L-carnitine / Public health systems and services research / Cardiomyopathies

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Mitochondria / Humans / Fatty acids / Mutation / Male / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis

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Carnitine palmitoyltransferase I, carnitine palmitoyltransferase II, and Acyl-CoA oxidase activities in atlantic salmon (Salmo salar)

Engineering / Skeletal muscle biology / Lipids / Liver / Fatty acids / Animals / Oxidoreductases / Fatty Acid Oxidation / Temperature / Atlantic Salmon / Enzyme / Myocardium / Isoenzymes / Salmo salar / Fatty Acid / Enzyme activity / Oxidation-Reduction / Muscle Activity / High energy / Animals / Oxidoreductases / Fatty Acid Oxidation / Temperature / Atlantic Salmon / Enzyme / Myocardium / Isoenzymes / Salmo salar / Fatty Acid / Enzyme activity / Oxidation-Reduction / Muscle Activity / High energy

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Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid

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Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid

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Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid / Fatty Acid Oxidation / Tandem Mass Spectrometry / Newborn Screening / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Organic Acid

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Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Genetics / Vitamins / Molecular Genetics / Malnutrition / Humans / Electron Transfer / Female / Fatty Acid Oxidation / Mothers / Skin / Electron Transport / Enzyme / Clinical Sciences / Newborn Infant / L-carnitine / Fatty Acid / Human Fibroblasts / Oxidation-Reduction / Electron Transfer / Female / Fatty Acid Oxidation / Mothers / Skin / Electron Transport / Enzyme / Clinical Sciences / Newborn Infant / L-carnitine / Fatty Acid / Human Fibroblasts / Oxidation-Reduction

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Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Genetics / Vitamins / Molecular Genetics / Malnutrition / Humans / Electron Transfer / Female / Fatty Acid Oxidation / Mothers / Skin / Electron Transport / Enzyme / Clinical Sciences / Newborn Infant / L-carnitine / Fatty Acid / Human Fibroblasts / Oxidation-Reduction / Electron Transfer / Female / Fatty Acid Oxidation / Mothers / Skin / Electron Transport / Enzyme / Clinical Sciences / Newborn Infant / L-carnitine / Fatty Acid / Human Fibroblasts / Oxidation-Reduction

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Pharmacological rescue of carnitine transport in primary carnitine deficiency

Genetics / Enzyme Inhibitors / Humans / Curcumin / Female / Animals / Male / Endoplasmic Reticulum / Fatty Acid Oxidation / Infant / Clinical Sciences / L-carnitine / Adult / vitamin B deficiency / Verapamil / Animals / Male / Endoplasmic Reticulum / Fatty Acid Oxidation / Infant / Clinical Sciences / L-carnitine / Adult / vitamin B deficiency / Verapamil

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Akt2 deficiency promotes cardiac induction of Rab4a and myocardial β-adrenergic hypersensitivity

Transgenic Mice / Signal Transduction / Molecular / Cardiac Hypertrophy / Diabetes mellitus / Mice / Animals / Fatty Acid Oxidation / Peroxisome proliferator-activated receptor / Glucose Transport / Rats / Myocardium / Time Factors / Propranolol / Protein Kinase / Coronary Artery Disease / Type 2 Diabetes Mellitus / Plasma Membrane / Gene Expression Regulation / Isoproterenol / Enzyme Induction / Mice / Animals / Fatty Acid Oxidation / Peroxisome proliferator-activated receptor / Glucose Transport / Rats / Myocardium / Time Factors / Propranolol / Protein Kinase / Coronary Artery Disease / Type 2 Diabetes Mellitus / Plasma Membrane / Gene Expression Regulation / Isoproterenol / Enzyme Induction

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Akt2 deficiency promotes cardiac induction of Rab4a and myocardial β-adrenergic hypersensitivity

Transgenic Mice / Signal Transduction / Molecular / Cardiac Hypertrophy / Diabetes mellitus / Mice / Animals / Fatty Acid Oxidation / Peroxisome proliferator-activated receptor / Glucose Transport / Rats / Myocardium / Time Factors / Propranolol / Protein Kinase / Coronary Artery Disease / Type 2 Diabetes Mellitus / Plasma Membrane / Gene Expression Regulation / Isoproterenol / Enzyme Induction / Mice / Animals / Fatty Acid Oxidation / Peroxisome proliferator-activated receptor / Glucose Transport / Rats / Myocardium / Time Factors / Propranolol / Protein Kinase / Coronary Artery Disease / Type 2 Diabetes Mellitus / Plasma Membrane / Gene Expression Regulation / Isoproterenol / Enzyme Induction

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A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency

Cell line / Humans / Fatty Acid Oxidation / High Pressure Liquid Chromatography / Multienzyme complexes / Peroxisomes / Yeasts / Lipid / Biochemistry and cell biology / Immunoblotting / Peroxisomes / Yeasts / Lipid / Biochemistry and cell biology / Immunoblotting

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