(Q34231358)

31 July 2017

1 reference

title

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene (English)

1 reference

31 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301207

10 September 2022

4

Hansen LL

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301207

10 September 2022

author name string

Dahl HH

1

1 reference

31 July 2017

Brown GK

2

1 reference

31 July 2017

Brown RM

3

1 reference

31 July 2017

Kerr DS

5

1 reference

31 July 2017

Wexler ID

6

1 reference

31 July 2017

Patel MS

7

1 reference

31 July 2017

De Meirleir L

8

1 reference

31 July 2017

Lissens W

9

1 reference

31 July 2017

Chun K

10

1 reference

31 July 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301207

10 September 2022

publication date

1 January 1992

1 reference

31 July 2017

1 reference

31 July 2017

1

1 reference

31 July 2017

97-102

1 reference

31 July 2017

2

1 reference

Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

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/10.1002%2FHUMU.1380010203

7 January 2021

A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Pyruvate dehydrogenase deficiency due to a mutation of the E1 α subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

A four‐nucleotide insertion at the E 1 α gene in a patient with pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Genetic defects in human pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Sites of phosphorylation on pyruvate dehydrogenase from bovine kidney and heart

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010203

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010203

1 reference

31 July 2017

1 reference