(Q34576223)

3 August 2017

title

Clinical utility gene card for: Lesch-Nyhan syndrome (English)

1 reference

3 August 2017

0 references

Rosa J Torres

1

1 reference

3 August 2017

Juan G Puig

series ordinal

2

1 reference

3 August 2017

Irène Ceballos-Picot

series ordinal

3

1 reference

3 August 2017

publication date

21 July 2010

1 reference

European Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

19

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

preceeding 118-20

1 reference

Attenuated variants of Lesch-Nyhan disease

3 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=3039492

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Delineation of the motor disorder of Lesch-Nyhan disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

An unexpected affected female patient in a classical Lesch-Nyhan family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Molecular analysis of a female Lesch-Nyhan patient

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Automated DNA sequencing of the human HPRT locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039492

Normal HPRT coding region in complete and partial HPRT deficiency.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.109

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.109

Lesch-Nyhan disease in a female with a clinically normal monozygotic twin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.109

Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.109

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.109

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

21 January 2018

1 reference

12 December 2020

Normal HPRT coding region in a male with gout due to HPRT deficiency

1 reference

12 December 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families

1 reference

12 December 2020

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.109

1 reference

3 August 2017

1 reference

3 August 2017

1 reference