(Q44279423)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

mitochondrial neurogastrointestinal encephalomyopathy

16 December 2019

main subject

1 reference

Erratum: Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

inferred from title

corrigendum / erratum

1 reference

DOI

10.1038/SJ.EJHG.5201020

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/SJ.EJHG.5201020

author

Çetin Kocaefe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Meral Özgüç

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Sevim Erdem

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Ersin Tan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

16 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

page(s)

102-104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

16 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

Altered thymidine metabolism due to defects of thymidine phosphorylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

7 January 2021

inferred from DOI database lookup

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200908

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/SJ.EJHG.5200908

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529715%20AND%20SRC:MED&resulttype=core&format=json

release_xaxmbtz3tbfzjogmogxbeppkcy

16 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xaxmbtz3tbfzjogmogxbeppkcy

24 November 2022

mapped directly with Wikidata item

1 reference