Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation (Q35662767)

9 August 2017

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title

Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation (English)

1 reference

9 August 2017

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C Angelini

1

1 reference

PubMed ID

1489518

9 August 2017

L Vergani

series ordinal

2

1 reference

PubMed ID

1489518

9 August 2017

A Martinuzzi

series ordinal

3

1 reference

9 August 2017

1 January 1992

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Critical Reviews in Clinical Laboratory Sciences

9 August 2017

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9 August 2017

29

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9 August 2017

3-4

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9 August 2017

217-242

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9 August 2017

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Fatty acid uptake by isolated rat heart myocytes represents a carrier-mediated transport process.

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Acyl-CoA-binding protein (ACBP) and its relation to fatty acid-binding protein (FABP): an overview

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cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase

21 January 2018

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The existence of an inner-membrane-bound, long acyl-chain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria

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L-carnitine uptake in differentiating human cultured muscle

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

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Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

21 January 2018

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Transport of carnitine into cells in hereditary carnitine deficiency

21 January 2018

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

21 January 2018

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Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

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Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

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Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

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Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients.

21 January 2018

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

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

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

21 January 2018

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Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency

21 January 2018

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A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

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Short chain fatty acid-induced central hyperventilation in rabbits

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Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

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Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects

21 January 2018

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Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

21 January 2018

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

21 January 2018

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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

21 January 2018

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Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

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Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability

21 January 2018

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Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

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Carnitine deficiency: acute postpartum crisis

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Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.

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

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

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3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia

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Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

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Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

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Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.

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Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase

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

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Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

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

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10.3109/10408369209114601

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference

PubMed ID

1489518