(Q35848813)

10 August 2017

1 reference

title

Pyruvate dehydrogenase E1 alpha deficiency (English)

1 reference

Pyruvate dehydrogenase E1-alpha deficiency

10 August 2017

main subject

0 references

pyruvate decarboxylase deficiency

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528021

5 October 2022

author name string

G. K. Brown

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528021

5 October 2022

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=1528021

5 October 2022

publication date

1 January 1992

1 reference

Journal of Inherited Metabolic Disease

10 August 2017

published in

1 reference

10 August 2017

volume

15

1 reference

10 August 2017

issue

4

1 reference

10 August 2017

page(s)

625-633

1 reference

https://scigraph.springernature.com/pub.10.1007/bf01799619

10 August 2017

exact match

0 references

cites work

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799619

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

1 reference

12 December 2020

Neuropathology in cerebral lactic acidosis

1 reference

12 December 2020

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

1 reference

12 December 2020

The control of pyruvate dehydrogenase in isolated brain mitochondria.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene

1 reference

12 December 2020

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic defects in human pyruvate dehydrogenase

1 reference

12 December 2020

Sites of phosphorylation on pyruvate dehydrogenase from bovine kidney and heart

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799619

1 reference

10 August 2017

1 reference