Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia (Q35202020)

7 August 2017

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

1 reference

7 August 2017

Holland MJ

1

1 reference

7 August 2017

DiLorenzo AM

2

1 reference

7 August 2017

Dancis J

3

1 reference

7 August 2017

Balis ME

4

1 reference

7 August 2017

Yü TF

5

1 reference

7 August 2017

Cox RP

6

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 1976

1 reference

Journal of Clinical Investigation

7 August 2017

1 reference

7 August 2017

57

1 reference

7 August 2017

6

1 reference

7 August 2017

1600-1605

1 reference

Protein measurement with the Folin phenol reagent

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

13 July 2018

The Lesch-Nyhan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

Phosphoribosylpyrophosphate in man: biochemical and clinical significance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

INHIBITION OF PRUINE PHOSPHORIBOSYLTRANSFERASES OF EHRLICH ASCITES-TUMOUR CELLS BY 6-MERCAPTOPURINE

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=436819

END-PRODUCT INHIBITION OF THYMIDINE KINASE ACTIVITY IN NORMAL AND LEUKEMIC HUMAN LEUKOCYTES

26 September 2018

1 reference

12 December 2020

Rapid proliferation of sublines of NCTC clone 929 (strain L) mouse cells in a simple chemically defined medium (MB 752/1)

1 reference

12 December 2020

Inhibition of purine metabolism—Computer- assisted analysis of drug effects

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

Enzymopathic gout. Dyspurinia due to hypoxanthine-guanine-phosphoribosyl-transferase deficiency. Occurrence and clinical characteristics of enzyme repression

1 reference

12 December 2020

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

1 reference

12 December 2020

Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease)

1 reference

12 December 2020

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

Biochemical Evidence for a Distinct Type of Primary Gout

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI108430

1 reference

release_qcqz433ggjgbbn2taclwgmjau4

7 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qcqz433ggjgbbn2taclwgmjau4

24 November 2022

mapped directly with Wikidata item

PMCID

436819

1 reference

7 August 2017

1 reference