(Q41521436)

2 October 2017

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title

Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis (English)

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2 October 2017

Duran M

1

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2 October 2017

Dorland L

2

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2 October 2017

Meuleman EE

3

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2 October 2017

Allers P

4

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2 October 2017

Berger R

5

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2 October 2017

publication date

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

published in

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2 October 2017

volume

20

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2 October 2017

issue

2

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2 October 2017

page(s)

227-236

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2 October 2017

1 reference

12 December 2020

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency

1 reference

12 December 2020

Rapid, high-resolution, two-dimensional amino acid chromatography on micro scale chromatograms

1 reference

12 December 2020

Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain

1 reference

12 December 2020

Simple method of measurement of orotic acid and orotidine in urine

1 reference

12 December 2020

Urine test for adenylosuccinase deficiency in autistic children

1 reference

12 December 2020

Urinary excretion of methylated purines in man and in the rat after the administration of theophylline

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines

1 reference

12 December 2020

Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

1 reference

12 December 2020

Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency

1 reference

12 December 2020

A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics

1 reference

12 December 2020

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

1 reference

12 December 2020

Abnormal serum uric acid levels in children

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12 December 2020

An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids

1 reference

12 December 2020

Group tests for selective screening of inborn errors of metabolism

1 reference

12 December 2020

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

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12 December 2020

When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications

1 reference

12 December 2020

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

1 reference

12 December 2020

Xanthinuria, an inborn error (or deviation) of metabolism

1 reference

12 December 2020

URINE TEST FOR ADENYLOSUCCINASE DEFICIENCY IN AUTISTIC CHILDREN

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005360907238

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005360907238

1 reference

Dimensions Publication ID

2 October 2017

1011592750

0 references

1 reference