(Q41521428)

2 October 2017

1 reference

title

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

1 reference

2 October 2017

Simmonds HA

1

1 reference

2 October 2017

Duley JA

series ordinal

2

1 reference

2 October 2017

Fairbanks LD

series ordinal

3

1 reference

2 October 2017

McBride MB

series ordinal

4

1 reference

2 October 2017

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

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2 October 2017

20

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2 October 2017

2

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2 October 2017

214-226

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https://scigraph.springernature.com/pub.10.1023/a:1005308923168

2 October 2017

0 references

cites work

Hypouricemia--a differential diagnostic problem

1 reference

12 December 2020

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency

1 reference

12 December 2020

Distinct neurological syndrome in two brothers with hyperuricaemia

1 reference

12 December 2020

Gout, uric acid and purine metabolism in paediatric nephrology

1 reference

12 December 2020

Selective accumulation of cytosol CDP-choline as an isolated erythrocyte defect in chronic hemolysis

1 reference

12 December 2020

Purine nucleoside phosphorylase deficiency

1 reference

12 December 2020

New defects of pyrimidine metabolism

1 reference

12 December 2020

The importance of thiopurine methyltransferase activity for the use of azathioprine in transplant recipients

1 reference

12 December 2020

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

1 reference

12 December 2020

Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.

1 reference

12 December 2020

Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.

1 reference

12 December 2020

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

1 reference

12 December 2020

Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity

1 reference

12 December 2020

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects

1 reference

12 December 2020

Familial renal disease or familial juvenile hyperuricaemic nephropathy?

1 reference

12 December 2020

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005308923168

7 January 2021

inferred from DOI database lookup

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

1 reference

12 December 2020

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency

1 reference

12 December 2020

Acute renal failure due to xanthine stones

1 reference

12 December 2020

Adult presentation of adenosine deaminase deficiency

1 reference

12 December 2020

Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism (the Lesch-Nyhan syndrome).

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005308923168

1 reference

Dimensions Publication ID

2 October 2017

0 references

1 reference