Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants (Q57563260)

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2 November 2019

title

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11117427%20AND%20SRC:MED&resulttype=core&format=json

ornithine carbamoyltransferase deficiency

2 November 2019

main subject

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1 reference

4

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2 November 2019

author name string

E Riudor

1

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2 November 2019

J A Arranz

2

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2 November 2019

M Rodés

3

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2 November 2019

M Sentís

5

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2 November 2019

A B Burlina

6

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2 November 2019

publication date

1 November 2000

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Journal of Inherited Metabolic Disease

2 November 2019

published in

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2 November 2019

volume

23

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2 November 2019

issue

7

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2 November 2019

page(s)

662-668

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https://scigraph.springernature.com/pub.10.1023/a:1005610325170

2 November 2019

exact match

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cites work

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

1 reference

12 December 2020

Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

1 reference

12 December 2020

Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency

1 reference

12 December 2020

Allopurinol challenge test in children

1 reference

12 December 2020

Control of pyrimidine biosynthesis in mammalian tissues. I. Partial purification and characterization of glutamine-utilizing carbamyl phosphate synthetase of mouse spleen and its tissue distribution

1 reference

12 December 2020

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

1 reference

12 December 2020

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women

1 reference

12 December 2020

Pyrimidine Nucleotide Biosynthesis in Animals: Genes, Enzymes, and Regulation of UMP Biosynthesis

1 reference

12 December 2020

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

1 reference

12 December 2020