(Q35662767)

9 August 2017

1 reference

title

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

1 reference

9 August 2017

0 references

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

1 reference

Critical Reviews in Clinical Laboratory Sciences

9 August 2017

1 reference

9 August 2017

29

1 reference

9 August 2017

217-242

1 reference

9 August 2017

3-4

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

9 August 2017

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

L-carnitine uptake in differentiating human cultured muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

Transport of carnitine into cells in hereditary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

Short chain fatty acid-induced central hyperventilation in rabbits

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

Carnitine deficiency: acute postpartum crisis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10408369209114601

10.3109/10408369209114601

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference

PubMed ID

1489518