(Q40379245)

20 September 2017

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title

Disorders of mitochondrial long-chain fatty acid oxidation (English)

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20 September 2017

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R J Pollitt

1

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20 September 2017

1 January 1995

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Journal of Inherited Metabolic Disease

20 September 2017

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20 September 2017

18

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20 September 2017

473-490

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20 September 2017

4

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https://scigraph.springernature.com/pub.10.1007/bf00710058

20 September 2017

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cites work

Interaction of acyl-CoA binding protein (ACBP) on processes for which acyl-CoA is a substrate, product or inhibitor

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00710058

Kinetic advantage of the interaction between the fatty acid beta-oxidation enzymes and the complexes of the respiratory chain

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00710058

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

12 December 2020

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

1 reference

12 December 2020

Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.

1 reference

12 December 2020

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

1 reference

12 December 2020

Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system

1 reference

12 December 2020

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

1 reference

12 December 2020

A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts

1 reference

12 December 2020

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1 reference

12 December 2020

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

1 reference

12 December 2020

The investigation of hypoglycaemia during childhood

1 reference

12 December 2020

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

1 reference

12 December 2020

Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria

1 reference

12 December 2020

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

1 reference

12 December 2020

Intramitochondrial control of the oxidation of hexadecanoate in skeletal muscle. A study of the acyl-CoA esters which accumulate during rat skeletal-muscle mitochondrial beta-oxidation of [U-14C]hexadecanoate and [U-14C]hexadecanoyl-carnitine

1 reference

12 December 2020

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

1 reference

12 December 2020

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

1 reference

12 December 2020

Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

1 reference

12 December 2020

Steady-state concentrations of coenzyme A, acetyl-coenzyme A and long-chain fatty acyl-coenzyme A in rat-liver mitochondria oxidizing palmitate

1 reference

12 December 2020

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system

1 reference

12 December 2020

Carnitine-acylcarnitine translocase deficiency: implications in human pathology

1 reference

12 December 2020

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

Combined enzyme defect of mitochondrial fatty acid oxidation

1 reference

12 December 2020

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

1 reference

12 December 2020

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

1 reference

12 December 2020

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

12 December 2020

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein

1 reference

12 December 2020

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies

1 reference

12 December 2020

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase

1 reference

12 December 2020

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

12 December 2020

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

1 reference

12 December 2020

The inborn errors of mitochondrial fatty acid oxidation

1 reference

12 December 2020

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients

1 reference

12 December 2020

Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders

1 reference

12 December 2020

Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

1 reference

12 December 2020

Profound carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

1 reference

12 December 2020

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

1 reference

12 December 2020

Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. The minor component is identical to the liver enzyme

1 reference

12 December 2020

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis

1 reference

12 December 2020

Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria

1 reference

12 December 2020

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

1 reference

12 December 2020

Carnitine palmitoyltransferase deficiency

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12 December 2020

Fatty acid oxidation in soluble systems of mammalian origin: the beginnings

1 reference

12 December 2020

Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria.

1 reference

12 December 2020

Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.

1 reference

12 December 2020

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

12 December 2020

Prenatal diagnosis of a defect in medium-chain fatty acid oxidation

1 reference

12 December 2020

Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function

1 reference

12 December 2020

Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes

1 reference

12 December 2020

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation

1 reference

12 December 2020

Transverse-plane topography of long-chain acyl-CoA synthetase in the mitochondrial outer membrane

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12 December 2020

Identifiers

DOI

10.1007/BF00710058

1 reference

PubMed ID

7494405

Dimensions Publication ID

20 September 2017

0 references

1 reference

PubMed ID

7494405