(Q34363470)

1 August 2017

title

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit (English)

1 reference

pyruvate decarboxylase deficiency

1 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551669

8 October 2022

author name string

L. De Meirleir

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551669

8 October 2022

W. Lissens

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551669

8 October 2022

E. Vamos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551669

8 October 2022

I. Liebaers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551669

8 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=1551669

8 October 2022

publication date

1 March 1992

1 reference

1 August 2017

1 reference

1 August 2017

volume

88

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

649-652

1 reference

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

1 August 2017

cites work

1 reference

12 December 2020

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit

1 reference

12 December 2020

Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

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

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

12 December 2020

Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Agenesis of the corpus callosum: a marker for inherited metabolic disease?

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

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

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/BF02265291

1 reference

Dimensions Publication ID

1 August 2017

1018686617

0 references

1 reference