(Q48092166)

8 February 2018

title

Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy (English)

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8 February 2018

author name string

B Melegh

1

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8 February 2018

L Seress

2

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8 February 2018

T Bedekovics

3

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8 February 2018

G Kispál

4

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8 February 2018

B Sümegi

5

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8 February 2018

K Trombitás

6

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8 February 2018

K Méhes

7

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8 February 2018

publication date

1 October 1999

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8 February 2018

Journal of Inherited Metabolic Disease

published in

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8 February 2018

volume

22

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8 February 2018

issue

7

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8 February 2018

page(s)

827-838

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8 February 2018

https://scigraph.springernature.com/pub.10.1023/a:1005562209034

exact match

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cites work

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12 December 2020

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Clinical presentation of mitochondrial disorders in childhood.

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Preferential elimination of pivalate with supplemental carnitine via formation of pivaloylcarnitine in man

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Rapid isolation of animal mitochondrial DNA by alkaline extraction

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12 December 2020

Distribution, morphological features, and synaptic connections of parvalbumin- and calbindin D28k-immunoreactive neurons in the human hippocampal formation

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12 December 2020

Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation?

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12 December 2020

Fragile mitochondrial DNA: the missing link in the apoptotic neuronal cell death in Parkinson's disease.

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12 December 2020

Normal oxidative damage to mitochondrial and nuclear DNA is extensive

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12 December 2020

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

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12 December 2020

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12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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12 December 2020

Diseases of the mitochondrial DNA.

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12 December 2020

Cloning and sequencing of a cDNA encoding Saccharomyces cerevisiae carnitine acetyltransferase. Use of the cDNA in gene disruption studies

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12 December 2020

Cytochrome oxidase deficiency affecting the structure of the myofibre and the shape of mitochondrial cristae membrane

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12 December 2020

Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype

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12 December 2020

Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress

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12 December 2020

Evidence for the existence of tissue specific isoenzymes of mitochondrial NADH dehydrogenase

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12 December 2020

Postnatal development of mossy cells in the human dentate gyrus: A light microscopic Golgi study

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12 December 2020

Molecular genetic aspects of human mitochondrial disorders

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12 December 2020

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients

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12 December 2020

Identifiers

DOI

10.1023/A:1005562209034

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8 February 2018

Dimensions Publication ID

1008538185

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8 February 2018