(Q69005860)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2443757%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

title

Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2443757%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

L D Fairbanks

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2443757%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

H A Simmonds

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2443757%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

D R Webster

1 reference

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29 September 2019

publication date

1 January 1987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2443757%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

29 September 2019

published in

1 reference

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29 September 2019

volume

1 reference

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29 September 2019

issue

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29 September 2019

page(s)

174-186

1 reference

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Adenine phosphoribosyltransferase in patients with disorders of purine and pyrimidine metabolism

29 September 2019

cites work

1 reference

12 December 2020

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

1 reference

12 December 2020

Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates

1 reference

12 December 2020

Purine and Pyrimidine Metabolism: Pathways, Pitfalls and Perturbations

1 reference

12 December 2020

Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase

1 reference

12 December 2020

Correlations between purine levels, clinical and immunological status in ADA deficiency

1 reference

12 December 2020

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities

1 reference

12 December 2020

Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure

1 reference

12 December 2020

Erythrocyte GTP depletion in PNP deficiency presenting with haemolytic anaemia and hypouricaemia

1 reference

12 December 2020

Studies on adenine and adenosine metabolism by intact human erythrocytes using high performance liquid chromatography

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

1 reference

12 December 2020

Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations

1 reference

12 December 2020

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy.

1 reference

12 December 2020

Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness

1 reference

12 December 2020