The changing face of disorders of fatty acid oxidation (Q40727965)

23 September 2017

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title

The changing face of disorders of fatty acid oxidation (English)

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23 September 2017

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J Vockley

1

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23 September 2017

language of work or name

English

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publication date

1 March 1994

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23 September 2017

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23 September 2017

volume

69

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23 September 2017

issue

3

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23 September 2017

page(s)

249-257

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Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

23 September 2017

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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

7 January 2021

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Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

7 January 2021

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Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane

7 January 2021

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Regulation of hepatic fatty acid oxidation and ketone body production

7 January 2021

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A mitochondrial carnitine acylcarnitine translocase system

7 January 2021

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Combined enzyme defect of mitochondrial fatty acid oxidation

7 January 2021

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Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

7 January 2021

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Infantile idiopathic myopathic carnitine deficiency: treatment with L-carnitine

7 January 2021

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Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

7 January 2021

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Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

7 January 2021

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Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

7 January 2021

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Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

7 January 2021

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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

7 January 2021

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Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

7 January 2021

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Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

7 January 2021

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Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

7 January 2021

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Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

7 January 2021

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A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

7 January 2021

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Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

7 January 2021

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Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

7 January 2021

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Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

7 January 2021

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Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

7 January 2021

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Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

7 January 2021

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Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

7 January 2021

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3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation

7 January 2021

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Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients

7 January 2021

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Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

7 January 2021

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Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

7 January 2021

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Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

7 January 2021

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Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

7 January 2021

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2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation

7 January 2021

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Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

7 January 2021

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Possible deleterious effect ofL-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria)

7 January 2021

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Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency

7 January 2021

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Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

7 January 2021

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Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation

7 January 2021

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Comparison of post-mortem urinary and vitreous humour organic acids

7 January 2021

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Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots

7 January 2021

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10.1016/S0025-6196(12)61064-7

7 January 2021

Identifiers

DOI

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23 September 2017

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