Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle (Q73943176)

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8 November 2019

title

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle (English)

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carnitine-acylcarnitine translocase deficiency

8 November 2019

main subject

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author name string

W Röschinger

1

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8 November 2019

A C Muntau

2

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8 November 2019

M Duran

3

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8 November 2019

L Dorland

4

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8 November 2019

L IJlst

5

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8 November 2019

R J Wanders

6

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8 November 2019

A A Roscher

7

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8 November 2019

publication date

1 August 2000

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8 November 2019

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8 November 2019

volume

298

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8 November 2019

page(s)

55-68

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8 November 2019

issue

1-2

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Comparison of serum carnitine and ketone body concentrations in breast- and in formula-fed newborn infants

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Cellular energy metabolism during fetal development. IV. Fatty acid activation, acyl transfer and fatty acid oxidation during development of the chick and rat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Fatty acids as substrates for heart and skeletal muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

The role of acylcarnitine esters and carnitine palmityltransferase in the transport of fatty acyl groups across mitochondrial membranes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Researches on fat metabolism. II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Regulation of hepatic gluconeogenesis by rapid compartmentation of mitochondrial adenine nucleotides in the newborn rabbit.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Effect of long-chain fatty acyl-CoA on mitochondrial and cytosolic ATP/ADP ratios in the intact liver cell

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Regulation of fatty acid oxidation by acetyl-CoA generated from glucose utilization in isolated myocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

Carnitine-acylcarnitine translocase deficiency--a mild phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2800%2900268-0

10.1016/S0009-8981(00)00268-0

7 January 2021

Identifiers

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8 November 2019

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