(Q35899438)

11 August 2017

Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis (English)

1 reference

11 August 2017

Benke PJ

1 reference

11 August 2017

Herrick N

series ordinal

1 reference

11 August 2017

Hebert A

series ordinal

1 reference

11 August 2017

language of work or name

English

0 references

publication date

1 September 1973

1 reference

Journal of Clinical Investigation

11 August 2017

1 reference

11 August 2017

1 reference

11 August 2017

1 reference

11 August 2017

2234-2240

1 reference

The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Protein measurement with the Folin phenol reagent

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Effects of azathioprine in a disorder of uric acid metabolism and cerebral function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Further studies on genetically altered purine nucleotide pyrophosphorylases of salmonella

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

The spontaneous azaguanine-resistant mutants of diploid human fibroblasts.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Azaguanine resistant hamster cell lines not deficient in hypoxanthine-guanine phosphoribosyl transferase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Chemical Mutagenesis at the Phosphoribosyltransferase Locus in Cultured Human Lymphoblasts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

The biological significance of purine salvage

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Phosphoribosylpyrophosphate in man: biochemical and clinical significance

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

Human hypoxanthine phosphoribosyltransferase. I. Purification, properties, and specificity.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=333025

The action of normal and atypical cholinesterase of human serum upon a series of esters of choline

24 September 2018

1 reference

12 December 2020

A new supporting medium for preparative electrophoresis

1 reference

12 December 2020

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout

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

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis

1 reference

12 December 2020

Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure

1 reference

12 December 2020

The return of antimetabolite sensitivity in methotrexate- and 6-mercaptopurine-resistant L1210 murine leukemia by the process of adaptive selection

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

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

1 reference

12 December 2020

PURINE NUCLEOTIDE PYROPHOSPHORYLASES IN 6-MERCAPTOPURINE-SENSITIVE AND -RESISTANT HUMAN LEUKEMIAS

1 reference

12 December 2020

A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers

1 reference

12 December 2020

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

1 reference

12 December 2020

The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis

1 reference

12 December 2020

Biochemical Evidence for a Distinct Type of Primary Gout

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI107409

1 reference

release_fwyh57gnozduxnm7uawrkhazjm

11 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fwyh57gnozduxnm7uawrkhazjm

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

4353774

1 reference