(Q24679244)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

1 reference

Endo H

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

Hasegawa K

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

Narisawa K

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

Tada K

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

Kagawa Y

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

Ohta S

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

language of work or name

English

0 references

publication date

1 March 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

30 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

page(s)

358-364

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

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

30 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

DNA sequencing with chain-terminating inhibitors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Disorders of pyruvate metabolism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein–Barr virus-induced B-cell lines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715432

Structure, assembly and function of mammalian alpha-keto acid dehydrogenase complexes

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2537010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical mechanisms of biotin and thiamin action and relationships to genetic disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2537010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of sickle cell anaemia and thalassaemias

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2537010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2537010%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

1 reference