(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

In more languages

default for all languages

No label defined

No description defined

Statements

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

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

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q44134543&oldid=2206455901"