(Q34279417)

https://api.crossref.org/works/10.1172/JCI105913

1 August 2017

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man (English)

1 reference

adenine phosphoribosyltransferase deficiency

17 June 2023

main subject

0 references

adenine

0 references

author name string

W. N. Kelley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5676523

17 June 2023

R. I. Levy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5676523

17 June 2023

F. M. Rosenbloom

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5676523

17 June 2023

J. F. Henderson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5676523

17 June 2023

J. E. Seegmiller

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5676523

17 June 2023

language of work or name

English

0 references

publication date

1 October 1968

1 reference

full work available at URL

1 August 2017

https://europepmc.org/articles/PMC297392

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5676523

https://europepmc.org/articles/PMC297392?pdf=render

17 June 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%3A5676523

Journal of Clinical Investigation

17 June 2023

published in

1 reference

1 August 2017

47

1 reference

1 August 2017

2281-2289

1 reference

1 August 2017

10

1 reference

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

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With Hyperuricemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

Studies on the control of pyrimidine biosynthesis in human diploid cell strains, I. Effect of 6-azauridine on cellular phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

Blood-uric-acid levels in familial hypercholesterolaemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

HYPERTRIGLYCERIDEMIA IN GOUT.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=297392

Gout, Hyperlipidemia, and Diabetes Interrelationships

28 October 2018

1 reference

12 December 2020

Fat transport in lipoproteins--an integrated approach to mechanisms and disorders

1 reference

12 December 2020

Total inhibition of hepatic beta-lipoprotein production in the rat by orotic acid

1 reference

12 December 2020

Enzymatic deficiencies of purine nucleotide synthesis in the human erythrocyte

1 reference

12 December 2020

PROPERTIES ODF DIPLOID CELL STRAINS DEVELOPED FROM PATIENTS WITH AN INHERITED ABNORMALITY OF URIDINE BIOSYNTHESIS

1 reference

12 December 2020

Enzyme studies with mutant mammalian cells

1 reference

12 December 2020

HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI105913

1 reference

1 August 2017

1 reference

1 August 2017

1 reference