(Q73764669)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

dihydropyrimidine dehydrogenase deficiency

6 November 2019

main subject

0 references

author name string

I Holopainen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Pulkki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

O J Heinonen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Näntö-Salonen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

L Haataja

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J Greter

6

1 reference

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6 November 2019

E Holme

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

A B van Kuilenburg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

P Vreken

9

1 reference

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6 November 2019

A H van Gennip

10

1 reference

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6 November 2019

publication date

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

6 November 2019

published in

1 reference

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6 November 2019

volume

20

1 reference

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6 November 2019

issue

5

1 reference

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6 November 2019

page(s)

719-720

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323575%20AND%20SRC:MED&resulttype=core&format=json

Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria

6 November 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005399131620

inferred from DOI database lookup

7 January 2021

based on heuristic

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005399131620