(Q40665975)

22 September 2017

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency (English)

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22 September 2017

6

Marie-Thérèse Zabot

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author name string

Françoise Fouque

1

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22 September 2017

Michelle Brivet

2

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22 September 2017

Audrey Boutron

3

1 reference

22 September 2017

Christiane Vequaud

4

1 reference

22 September 2017

Cécile Marsac

5

1 reference

22 September 2017

Chantal Benelli

7

1 reference

22 September 2017

language of work or name

English

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publication date

5 March 2003

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22 September 2017

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22 September 2017

53

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22 September 2017

793-799

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22 September 2017

5

1 reference

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000057987.46622.64

22 September 2017

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cites work

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Treatment of congenital lactic acidosis with dichloroacetate

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Mechanism of activation of pyruvate dehydrogenase by dichloroacetate and other halogenated carboxylic acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

The pharmacology of dichloroacetate

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Stabilization of the pyruvate dehydrogenase E1alpha subunit by dichloroacetate

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000057987.46622.64

10.1203/01.PDR.0000057987.46622.64

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

22 September 2017

0 references

1 reference