(Q40326215)

English

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

scientific article published on July 1, 1972

In more languages

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scholarly article

1 reference

Europe PubMed Central

19 September 2017

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

1 reference

10.1172/JCI106982

https://api.crossref.org/works/10.1172/JCI106982

14 February 2023

Lesch-Nyhan syndrome

0 references

author name string

W. J. Arnold

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4624352

14 February 2023

J. C. Meade

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4624352

14 February 2023

W. N. Kelley

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4624352

14 February 2023

language of work or name

0 references

publication date

1 July 1972

1 reference

Europe PubMed Central

19 September 2017

full work available at URL

https://europepmc.org/articles/PMC292328

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4624352

14 February 2023

https://europepmc.org/articles/PMC292328?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4624352

14 February 2023

Journal of Clinical Investigation

1 reference

Europe PubMed Central

19 September 2017

51

1 reference

Europe PubMed Central

19 September 2017

1805-1812

1 reference

Europe PubMed Central

19 September 2017

7

1 reference

Europe PubMed Central

19 September 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

Studies on the coordinate activity and liability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

Mechanism of allopurinol-mediated increase in enzyme activity in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

22 September 2017

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=292328

17 June 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The significance of the deficiency state in Lesch-Nyhan disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of Inactive Enzyme Molecules in Ageing Organisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and Therapeutic Aspects of the Lesch-Nyhan Syndrome in Japanese Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purine base incorporation into erythrocyte nucleotides in hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Quantitative Serum–Agar Technique

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DETERMINATION OF DENSITY DISTRIBUTION OF RED CELL POPULATION

1 reference

https://pubmed.ncbi.nlm.nih.gov/4624352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI106982

1 reference

Europe PubMed Central

19 September 2017

1 reference

Europe PubMed Central

19 September 2017

1 reference

Europe PubMed Central

19 September 2017

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