(Q33569378)

28 July 2017

title

Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency (English)

1 reference

https://api.crossref.org/works/10.1136/ARD.34.3.249

28 July 2017

1 reference

17 October 2023

1 reference

https://api.crossref.org/works/10.1136/ARD.34.3.249

17 October 2023

D. N. Bunn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

17 October 2023

I. K. Moss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

17 October 2023

A. Nicholls

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

17 October 2023

J. T. Scott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

17 October 2023

M. L. Snaith

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

17 October 2023

M. R. Watson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

17 October 2023

language of work or name

English

0 references

publication date

1 June 1975

1 reference

full work available at URL

28 July 2017

https://ard.bmj.com/content/annrheumdis/34/3/249.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

https://europepmc.org/articles/PMC1006406

17 October 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

https://europepmc.org/articles/PMC1006406?pdf=render

17 October 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1155984

https://syndication.highwire.org/content/doi/10.1136/ard.34.3.249

17 October 2023

1 reference

https://api.crossref.org/works/10.1136/ARD.34.3.249

Annals of the Rheumatic Diseases

17 October 2023

published in

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

28 July 2017

page(s)

249-255

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

Metabolic defects of primary hyperuricemia and gout

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

The enzymatic spectrophotometric method for determination of uric acid

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1006406

An enzymatic spectrophotometric method for the determination of xanthine and hypoxanthine

31 October 2018

1 reference

12 December 2020

Purine nucleoside phosphorylase from human erythrocytes. I. Purification and properties

1 reference

12 December 2020

Evidence against the existence of guanosine and inosine kinases in human fibroblasts in tissue culture

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

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

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: effect of dietary purines on enzyme activity

1 reference

https://api.crossref.org/works/10.1136/ARD.34.3.249

Erasmus University Rotterdam

17 October 2023

1 reference

https://api.crossref.org/works/10.1136/ARD.34.3.249

Comment on the assay of purine phosphoribosyltransferases in cultured human fibroblasts

17 October 2023

1 reference

https://api.crossref.org/works/10.1136/ARD.34.3.249

17 October 2023

Identifiers

DOI

10.1136/ARD.34.3.249

1 reference

28 July 2017

1 reference

28 July 2017

1 reference