(Q35569948)

8 August 2017

title

Family studies of a Lesch-Nyhan patient from an isolated Canadian community (English)

1 reference

8 August 2017

0 references

K. Itiaba

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4689035

21 February 2023

M. Banfalvi

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4689035

21 February 2023

J. C. Crawhall

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4689035

21 February 2023

J. G. Mongeau

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4689035

21 February 2023

language of work or name

English

0 references

publication date

1 March 1973

1 reference

full work available at URL

8 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4689035/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4689035

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4689035/pdf/?tool=EBI

21 February 2023

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%3A4689035

https://europepmc.org/articles/PMC1762516

21 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4689035

https://europepmc.org/articles/PMC1762516?pdf=render

21 February 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%3A4689035

American Journal of Human Genetics

21 February 2023

published in

1 reference

8 August 2017

volume

25

1 reference

8 August 2017

issue

2

1 reference

8 August 2017

page(s)

134-140

1 reference

Protein measurement with the Folin phenol reagent

8 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=1762516

Gene action in the X-chromosome of the mouse (Mus musculus L.)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

Variations in purine phosphoribosyl transferase enzymes during growth of fibroblast cell cultures.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

Diagnosis and treatment of the Lesch-Nyhan syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

The enzymatic spectrophotometric method for determination of uric acid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762516

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/4689035

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/4689035

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1762516

1 reference

8 August 2017

1 reference