(Q71578989)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

0 references

1 reference

T Page

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

B Bakay

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

E Nissinen

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

W L Nyhan

series ordinal

1 reference

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19 October 2019

publication date

1 January 1981

1 reference

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Journal of Inherited Metabolic Disease

19 October 2019

published in

1 reference

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19 October 2019

volume

1 reference

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19 October 2019

issue

1 reference

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19 October 2019

page(s)

203-206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

19 October 2019

cites work

1 reference

12 December 2020

A specific enzyme defect in gout associated with overproduction of uric acid

1 reference

12 December 2020

Measurement of free nucleotides in cultured human lymphoid cells using high pressure liquid chromatography

1 reference

12 December 2020

Analysis of radioactive and nonradioactive purine bases, nucleosides, and nucleotides by high-speed chromatography on a single column

1 reference

12 December 2020

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

Purine nucleotide metabolism and nucleotide pool sizes in synchronized lymphoma L5178Y cells

1 reference

12 December 2020

Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia

1 reference

12 December 2020

Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome

1 reference

12 December 2020

A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

1 reference

12 December 2020

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

1 reference

12 December 2020

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

12 December 2020

Identification of inosine and hypoxanthine as endogenous inhibitors of [3H] diazepam binding in the central nervous system

1 reference

12 December 2020

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

1 reference

9 November 2024

https://opencitations.net/index/api/v1/references/10.1007/BF02263652

Identifiers

DOI

10.1007/BF02263652

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6796771%20AND%20SRC:MED&resulttype=core&format=json