(Q77422071)

English

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

scientific article published on 01 April 1999

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

dihydropyrimidine dehydrogenase deficiency

0 references

1 reference

based on heuristic

inferred from title

author name string

A B Van Kuilenburg

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

P Vreken

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

D Riva

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

G Botteon

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

N G Abeling

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

H D Bakker

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

A H Van Gennip

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

publication date

1 April 1999

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

191-192

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10234617%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

https://scigraph.springernature.com/pub.10.1023/a:1005470524203

0 references

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/10234617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/10234617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W

1 reference

https://pubmed.ncbi.nlm.nih.gov/10234617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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