(Q72738949)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

F F Snyder

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A E Chudley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

P M MacLeod

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

R J Carter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

E Fung

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

J K Lowe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

publication date

1 January 1984

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28 October 2019

1 reference

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28 October 2019

volume

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28 October 2019

issue

1 reference

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28 October 2019

page(s)

18-22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

28 October 2019

cites work

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

12 December 2020

Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts

1 reference

12 December 2020

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

1 reference

12 December 2020

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

1 reference

12 December 2020

Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis

1 reference

12 December 2020

A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase

1 reference

12 December 2020

Adenosine metabolism in phytohemagglutinin-stimulated human lymphocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

1 reference

12 December 2020

Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity

1 reference

12 December 2020

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

1 reference

12 December 2020

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

12 December 2020

Uric acid lithiasis associated with altered kinetics of hypoxanthine-guanine phosphoribosyltranferase

1 reference

12 December 2020

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

12 December 2020

Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes

1 reference

12 December 2020

Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

1 reference

12 December 2020

Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00270552

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6204922%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

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