Neonatal screening for defects of the mitochondrial trifunctional protein (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

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

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

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

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

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

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Application of electrospray tandem mass spectrometry to neonatal screening

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

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7 January 2021

Identifiers

DOI

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22 December 2017

PubMed ID

15896654

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22 December 2017