(Q44134543)

English

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction

scientific article published in August 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

author name string

C Benelli

1

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

F Fouque

2

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

I Redonnet-Vernhet

3

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

M Malgat

4

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

D Fontan

5

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

C Marsac

6

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

R Dey

7

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

publication date

1 August 2002

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

25

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

325-327

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

https://scigraph.springernature.com/pub.10.1023/a:1016570828778

0 references

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/12227466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12227466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12227466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12227466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1016570828778

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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