(Q46492883)

22 December 2017

title

Neonatal screening for defects of the mitochondrial trifunctional protein (English)

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22 December 2017

author name string

Johannes Sander

1

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22 December 2017

Stefanie Sander

2

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22 December 2017

Ulrike Steuerwald

3

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22 December 2017

Nils Janzen

4

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22 December 2017

Michael Peter

5

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22 December 2017

Ronald J A Wanders

6

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22 December 2017

Iris Marquardt

7

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22 December 2017

G Christoph Korenke

8

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22 December 2017

Anibh M Das

9

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22 December 2017

publication date

24 March 2005

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22 December 2017

Molecular Genetics and Metabolism

published in

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22 December 2017

volume

85

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22 December 2017

issue

2

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22 December 2017

page(s)

108-114

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22 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

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.2005.02.002

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.2005.02.002

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

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.2005.02.002

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Liver disease in pregnancy and fetal fatty acid oxidation defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Application of electrospray tandem mass spectrometry to neonatal screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.02.002

10.1016/J.YMGME.2005.02.002

7 January 2021

Identifiers

DOI

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22 December 2017

PubMed ID

15896654

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22 December 2017