L-carnitine | DATOSPDF

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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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Vitamin D / Pregnancy / Humans / Fatty acids / Female / Male / Infant / Dietary Supplements / Pediatric / Calcitriol / Creatine Kinase / Clinical Sciences / Newborn Infant / L-carnitine / Fatty Liver / Spectrum / Fatty Acid / Physical examination / Gas Chromatography/mass Spectrometry / Amino Acid Profile / Metabolic Acidosis / Anion Gap / Hydroxylation / Human Fibroblasts / Lactic Acid / Vitamin D Deficiency / Male / Infant / Dietary Supplements / Pediatric / Calcitriol / Creatine Kinase / Clinical Sciences / Newborn Infant / L-carnitine / Fatty Liver / Spectrum / Fatty Acid / Physical examination / Gas Chromatography/mass Spectrometry / Amino Acid Profile / Metabolic Acidosis / Anion Gap / Hydroxylation / Human Fibroblasts / Lactic Acid / Vitamin D Deficiency

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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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Methylmalonic acidaemia in pregnancy

Pregnancy / Humans / Female / Dietary Supplements / L-carnitine / Adult / Case reports / Zinc Sulfate / Calcium Carbonate / BMJ Case Reports / Adult / Case reports / Zinc Sulfate / Calcium Carbonate / BMJ Case Reports

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Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies

Electron Microscopy / Pediatric Neurology / Biopsy / Humans / Male / Muscles / Infant / Follow-up studies / Newborn Infant / L-carnitine / Amino Acids / Neurosciences / Muscles / Infant / Follow-up studies / Newborn Infant / L-carnitine / Amino Acids / Neurosciences

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Amino acid pattern in Reye syndrome: Comparison with clinically similar entities

Pediatrics / Humans / Differential Diagnosis / L-carnitine / Amino Acids / Amino Acid Profile

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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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Pericardial effusion in primary systemic carnitine deficiency

Polymorphism / Humans / Mutation / Female / Inborn errors of metabolism / Infant / Clinical Sciences / L-carnitine / Infant / Clinical Sciences / L-carnitine

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Biochemical Correction of Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency After Portal Vein Injection of rAAV8-SCAD

Liver / Medical Biotechnology / Mice / Animals / Inborn errors of metabolism / Cytomegalovirus / Clinical Sciences / L-carnitine / Portal vein / Cytomegalovirus / Clinical Sciences / L-carnitine / Portal vein

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Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Biochemistry / Genetics / Adolescent / Medicine / Genetic Diversity / Case Report / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Statistical Significance / Infant / Netherlands / Newborn Screening / Phenotype / Newborn Infant / L-carnitine / Genotype / Deficiency / Retrospective Studies / Developmental delay / Autosomal Recessive / Deficit / Clinical Signs / Retrospective Study / Malonates / JAMA / Riboflavin / Case Report / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Statistical Significance / Infant / Netherlands / Newborn Screening / Phenotype / Newborn Infant / L-carnitine / Genotype / Deficiency / Retrospective Studies / Developmental delay / Autosomal Recessive / Deficit / Clinical Signs / Retrospective Study / Malonates / JAMA / Riboflavin

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Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency)

Cognitive Science / Neurology / Magnetic Resonance Imaging / Brain / Humans / Male / Infant / Tandem Mass Spectrometry / Clinical Sciences / L-carnitine / Neurosciences / Male / Infant / Tandem Mass Spectrometry / Clinical Sciences / L-carnitine / Neurosciences

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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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Rise in plasma trimethyllysine levels in humans after oral lysine load

Engineering / Humans / Male / Tryptophan / L-carnitine / Lysine / Adult / Time Factors / Lysine / Adult / Time Factors

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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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