(Q33829464)

29 July 2017

1 reference

title

Disorders of lipid metabolism in skeletal muscle (English)

1 reference

29 July 2017

Cwik VA

1

1 reference

29 July 2017

1 February 2000

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29 July 2017

1 reference

29 July 2017

18

1 reference

29 July 2017

1

1 reference

29 July 2017

167-184

1 reference

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

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine deficiency: acute postpartum crisis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Abnormal carnitine distribution in the muscles of patients with idiopathic inflammatory myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

ATP degradation products after ischemic exercise: hereditary lack of phosphorylase or carnitine palmityltransferase.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine deficiency induced during intermittent haemodialysis for renal failure

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Myopathy associated with abnormal lipid metabolism in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine deficiency syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Cold Induced Rhabdomyolysis in Carnitine Palmyityl Transferase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Biochemical and physiologic consequences of carnitine palmityltransferase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Fatal cases of lipid storage myopathy with carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine-palmityl-transferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Disorders of lipid metabolism in muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine palmitoyl transferase deficiency in pregnancy--a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Fuel Homeostasis in Exercise

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine palmityltransferase deficiency with permanent weakness

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Muscle carnitine deficiency and fatal cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Serum carnitine in Reye's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Partial Deficiency of Muscle Carnitine Palmitoyltransferase with Normal Ketone Production

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Postanesthetic acute renal failure due to carnitine palmityl transferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Emetine-induced myopathy and carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine function and requirements during the life cycle

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Sodium gradient-stimulated transport of L-carnitine into renal brush border membrane vesicles: kinetics, specificity, and regulation by dietary carnitine

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Deficiency of carnitine in cachectic cirrhotic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Lipid storage myopathy in infantile Pompe's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Atypical presentation of carnitine palmitoyltransferase (CPT) deficiency as status epilepticus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine deficiency, organic acidemias, and Reye's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Infantile Pompe's disease, lipid storage, and partial carnitine deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Carnitine palmitoyl transferase deficiency in malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

1 reference

7 January 2021

Corticosteroid-responsive skeletal muscle disease associated with partial carnitine deficiency: studies of liver and metabolic alterations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Tissue carnitine in Reye syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

Active transport of carnitine into skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970183-3

7 January 2021

10.1016/S0733-8619(05)70183-3

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10658173