(Q37292247)

English

A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene

scientific article published on October 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Eun-Ha Lee

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Mi-Sun Ahn

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jin-Soon Hwang

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Kyung-Hwa Ryu

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Sun-Jun Kim

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Sung-Hwan Kim

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

publication date

1 October 2006

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Journal of Korean Medical Science

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

21

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

800-804

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

1 January 2006

1 reference

April 2022 Public Data File from Crossref

copyright status

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

6 September 2017

Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

6 September 2017

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

6 September 2017

Stable restoration of pyruvate dehydrogenase complex in E1-defective human lymphoblastoid cells: evidence that three C-terminal amino acids of E1 alpha are essential for the structural integrity of heterotetrameric E1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

26 June 2018

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

26 June 2018

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

3 September 2018

The relationships between transketolase, yeast pyruvate decarboxylase and pyruvate dehydrogenase of the pyruvate dehydrogenase complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721986

3 September 2018

Pharmacokinetics of thiamin after oral administration of thiamin tetrahydrofurfuryl disulfide to humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/17043409

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17043409

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17043409

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17043409

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3346/JKMS.2006.21.5.800

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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