(Q67836100)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

title

A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

https://api.crossref.org/works/10.1007/BF01799952

18 September 2019

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

1 reference

pyruvate decarboxylase deficiency

21 November 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1779625

21 November 2022

1 reference

https://api.crossref.org/works/10.1007/BF01799952

21 November 2022

author name string

H. Endo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1779625

21 November 2022

S. Miyabayashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1779625

21 November 2022

K. Tada

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1779625

21 November 2022

K. Narisawa

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1779625

21 November 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=1779625

21 November 2022

publication date

1 January 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

18 September 2019

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01799952

1 reference

https://api.crossref.org/works/10.1007/BF01799952

Journal of Inherited Metabolic Disease

21 November 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

page(s)

793-799

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1779625%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01799952

18 September 2019

exact match

0 references

cites work

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

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

Titration of variant DNA sequences differing by a single point-mutation by selective dot-blot hybridization with synthetic oligonucleotides

1 reference

12 December 2020

Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

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

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

12 December 2020

Cloning and cDNA sequence of the beta-subunit component of human pyruvate dehydrogenase complex

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

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

12 December 2020

A mild procedure for the rapid release of cytoplasmic enzymes from cultured animal cells

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

Subunit associations in the mammalian pyruvate dehydrogenase complex. Structure and role of protein X and the pyruvate dehydrogenase component binding domain of the dihydrolipoyl transacetylase component.

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