(Q28115518)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15385443%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities (English)

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15385443%20AND%20SRC:MED&resulttype=core&format=json

Beta-ureidopropionase deficiency

2 January 2020

main subject

1 reference

17

1 reference

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2 January 2020

author name string

Rutger Meinsma

2

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15385443%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Eva Beke

3

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15385443%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Birgit Assmann

4

2 references

3 January 2017

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2 January 2020

Antonia Ribes

5

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15385443%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Isabel Lorente

6

2 references

3 January 2017

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2 January 2020

Rebekka Busch

7

2 references

3 January 2017

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2 January 2020

Ertan Mayatepek

8

2 references

3 January 2017

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2 January 2020

Arno van Cruchten

10

2 references

3 January 2017

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2 January 2020

Henk van Lenthe

12

2 references

3 January 2017

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2 January 2020

Lida Zoetekouw

13

2 references

3 January 2017

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2 January 2020

Willem Kulik

14

2 references

3 January 2017

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2 January 2020

Thomas Voit

16

2 references

3 January 2017

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2 January 2020

Frank Rutsch

18

2 references

3 January 2017

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2 January 2020

André B P van Kuilenburg

1

1 reference

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2 January 2020

Nico G G M Abeling

9

1 reference

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2 January 2020

Alida E M Stroomer

11

1 reference

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2 January 2020

Georg F Hoffmann

15

1 reference

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2 January 2020

Albert H van Gennip

19

1 reference

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2 January 2020

publication date

22 September 2004

1 reference

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2 January 2020

published in

Human Molecular Genetics

2 references

3 January 2017

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2 January 2020

volume

13

2 references

3 January 2017

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2 January 2020

page(s)

2793-2801

1 reference

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2 January 2020

issue

22

2 references

3 January 2017

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De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Identification of a G protein-coupled receptor specifically responsive to beta-alanine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Purification, characterization and inhibition of dihydropyrimidinase from rat liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Expression and properties of human liver beta-ureidopropionase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Repair of deaminated bases in DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Quantification of 5,6-dihydrouracil by HPLC-electrospray tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

Measurement of protein using bicinchoninic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH303

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH303

2 references

Consolidated OpenCitations Corpus – April 2017

3022298

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2 January 2020

3022298

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3022298