(Q69599916)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

title

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome) (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

28 February 2023

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

28 February 2023

author name string

C. H. de Bruyn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4747812

28 February 2023

T. L. Oei

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4747812

28 February 2023

R. A. Geerdink

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4747812

28 February 2023

E. J. Lommen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4747812

28 February 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=4747812

28 February 2023

publication date

1 January 1973

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

4 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1973.tb01931.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1973.tb01931.x/fullpdf

28 February 2023

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

28 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

page(s)

353-359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

Lesch-Nyhan syndrome: Incorporation of hypoxanthine in stimulated lymphocytes

4 October 2019

cites work

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

A new assay method for hypoxanthine-guanine phosphoribosyltransferase

28 February 2023

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency

28 February 2023

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

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

28 February 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

28 February 2023

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

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

28 February 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

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

28 February 2023

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1973.TB01931.X

28 February 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4747812%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

1 reference