(Q45779336)

16 December 2017

title

Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening (English)

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16 December 2017

author name string

Astrid Sperk

series ordinal

1

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16 December 2017

Martina Mueller

series ordinal

2

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16 December 2017

Ute Spiekerkoetter

series ordinal

3

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16 December 2017

publication date

24 July 2010

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16 December 2017

Molecular Genetics and Metabolism

published in

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16 December 2017

volume

101

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16 December 2017

issue

2-3

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16 December 2017

page(s)

205-207

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16 December 2017

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

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.2010.07.003

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

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.2010.07.003

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

Neonatal screening for defects of the mitochondrial trifunctional protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

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.2010.07.003

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.003

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.2010.07.003

10.1016/J.YMGME.2010.07.003

7 January 2021

Identifiers

DOI

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16 December 2017

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16 December 2017