(Q46811589)

25 December 2017

title

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts (English)

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25 December 2017

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Roe DS

1

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25 December 2017

Yang BZ

2

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25 December 2017

Vianey-Saban C

3

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25 December 2017

Struys E

4

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Sweetman L

5

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25 December 2017

Roe CR

6

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25 December 2017

publication date

16 November 2005

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25 December 2017

Molecular Genetics and Metabolism

published in

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25 December 2017

volume

87

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25 December 2017

issue

1

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25 December 2017

page(s)

40-47

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25 December 2017

Recent developments in the investigation of inherited metabolic disorders using cultured human cells

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The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy

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Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts

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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation

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Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

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Antenatal expression of multiple acyl-CoA dehydrogenase deficiency

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids

7 January 2021

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

7 January 2021

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Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

7 January 2021

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7 January 2021

Identifiers

DOI

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25 December 2017

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25 December 2017