(Q46591095)

23 December 2017

title

Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency (English)

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23 December 2017

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Ute Spiekerkoetter

1

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23 December 2017

Martina Mueller

2

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23 December 2017

Eva Cloppenburg

3

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Reinald Motz

4

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23 December 2017

Ertan Mayatepek

5

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Burkhard Bueltmann

6

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Christoph Korenke

7

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23 December 2017

publication date

15 May 2008

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23 December 2017

Molecular Genetics and Metabolism

published in

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23 December 2017

volume

94

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23 December 2017

issue

4

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23 December 2017

page(s)

428-430

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23 December 2017

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

Transcriptional activation of energy metabolic switches in the developing and hypertrophied heart

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

Long-Chain Fatty Acid Oxidation during Early Human Development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.002

10.1016/J.YMGME.2008.04.002

7 January 2021

Identifiers

DOI

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23 December 2017

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23 December 2017