(Q34986882)

5 August 2017

title

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child (English)

1 reference

5 August 2017

1

T. M. Barratt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

2

H. A. Simmonds

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

3

J. S. Cameron

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

4

C. F. Potter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

author name string

G. A. Rose

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

D. G. Arkell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

D. I. Williams

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

30 June 2022

language of work or name

English

0 references

publication date

1 January 1979

1 reference

full work available at URL

5 August 2017

https://europepmc.org/articles/PMC1545198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A420519

https://europepmc.org/articles/PMC1545198?pdf=render

30 June 2022

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%3A420519

https://syndication.highwire.org/content/doi/10.1136/adc.54.1.25

30 June 2022

1 reference

https://api.crossref.org/works/10.1136/ADC.54.1.25

Archives of Disease in Childhood

27 April 2023

published in

1 reference

5 August 2017

volume

54

1 reference

5 August 2017

issue

1

1 reference

5 August 2017

page(s)

25-31

1 reference

Xanthinuria, an inborn error (or deviation) of metabolism

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Adenine Phosphoribosyltransferase Deficiency in a Female with Gout

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Recent data on uric acid lithiasis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

The identification of 2,8-dihydroxyadenine, a new component of urinary stones

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Functional assay of cytotoxic lymphocytes involved in antibody-mediated cytotoxicity in normal and rheumatoid subjects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Incidence of APRT deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Child's Urinary Lithiasis Revealing a Complete Deficit in Adenine Phosphoribosyl Transferase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545198

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families

8 July 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

The thermogravimetric analysis of renal stones (in clinical practice)

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

The Lesch-Nyhan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

Gout with adenine phosphoribosyl transferase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

A quantitative approach to the analysis of renal calculi

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

Purine phosphoribosyltransferase activity of human erythrocytes. Technic of determination

1 reference

https://pubmed.ncbi.nlm.nih.gov/420519

12 December 2020

Purine enzyme abnormalities: a four year experience

https://api.crossref.org/works/10.1136/ADC.54.1.25

12

1 reference

27 April 2023

Identifiers

DOI

10.1136/ADC.54.1.25

1 reference

5 August 2017

1 reference

5 August 2017

1 reference