Attenuated variants of Lesch-Nyhan disease (Q33742416)

29 July 2017

3 references

24 March 2019

22 April 2019

25 April 2019

Attenuated variants of Lesch-Nyhan disease (English)

1 reference

Raquel Dodelson de Kremer

29 July 2017

3 references

24 March 2019

22 April 2019

25 April 2019

13

object named as

Raquel Dodelson de Kremer

0 references

Stephen G. Reich

16

object named as

Stephen G Reich

1 reference

29 July 2017

H A Jinnah

1

1 reference

29 July 2017

Irene Ceballos-Picot

2

1 reference

29 July 2017

Rosa J Torres

3

1 reference

29 July 2017

Jasper E Visser

4

1 reference

29 July 2017

David J Schretlen

5

1 reference

29 July 2017

Alfonso Verdu

6

1 reference

29 July 2017

Laura E Laróvere

7

1 reference

29 July 2017

Chung-Jen Chen

8

1 reference

29 July 2017

Antonello Cossu

9

1 reference

29 July 2017

Chien-Hui Wu

10

1 reference

29 July 2017

Radhika Sampat

11

1 reference

29 July 2017

Shun-Jen Chang

12

1 reference

29 July 2017

Raquel Dodelson de Kremer

13

1 reference

29 July 2017

William Nyhan

14

1 reference

29 July 2017

James C Harris

15

1 reference

29 July 2017

Juan G Puig

17

1 reference

29 July 2017

Lesch-Nyhan Disease International Study Group

18

1 reference

29 July 2017

language of work or name

English

0 references

publication date

22 February 2010

1 reference

29 July 2017

1 March 2010

3 references

24 March 2019

22 April 2019

25 April 2019

4 references

29 July 2017

24 March 2019

22 April 2019

25 April 2019

133

1 reference

29 July 2017

Pt 3

1 reference

29 July 2017

671-689

1 reference

Creative Commons Attribution-NonCommercial

29 July 2017

3 references

24 March 2019

22 April 2019

25 April 2019

on focus list of Wikimedia project

ScienceSource

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Consequences of impaired purine recycling in dopaminergic neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Multifocal atrophy of cerebellar internal granular neurons in lesch-nyhan disease: case reports and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Basal ganglia dopamine loss due to defect in purine recycling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Delineation of the motor disorder of Lesch-Nyhan disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Striatal deformities of the hand and foot in Parkinson's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Stuttering may be a type of action dystonia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Presynaptic dopaminergic deficits in Lesch-Nyhan disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Gout, uric acid and purine metabolism in paediatric nephrology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Self-injury in Lesch-Nyhan disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Dystonic foot response of Parkinsonism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

The spectrum of HPRT deficiency: an update.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Cognitive abilities of patients with Lesch-Nyhan disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Behavior in the Lesch-Nyhan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Normal HPRT coding region in complete and partial HPRT deficiency.

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ013

Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ013

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/10.1093%2FBRAIN%2FAWQ013

Behavioral aspects of Lesch-Nyhan disease and its variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ013

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ013

Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ013

Partial HPRT deficiency phenotype and incomplete splicing mutation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Cognitive functioning in Lesch-Nyhan syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842514

Validity and reliability of a rating scale for the primary torsion dystonias

30 October 2018

1 reference

12 December 2020

Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells

1 reference

12 December 2020

Partial Deficit of Hypoxanthine Guanine Phosphoribosyl Transferase Presenting as Acute Renal Failure

1 reference

12 December 2020

Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders

1 reference

12 December 2020

Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome

1 reference

12 December 2020

Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome

1 reference

12 December 2020

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

1 reference

12 December 2020

Lesch-Nyhan variant: dystonia, ataxia, near-normal intelligence, and no self-mutilation

1 reference

12 December 2020

A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient

1 reference

12 December 2020

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

1 reference

12 December 2020

Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout

1 reference

12 December 2020

The spectrum of mutations causing HPRT deficiency: an update

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Lesch-Nyhan disease and the basal ganglia

1 reference

12 December 2020

New mutations of the HPRT gene in Lesch-Nyhan syndrome

1 reference

12 December 2020

Ocular motor dysfunction in Lesch-Nyhan disease

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

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies

1 reference

12 December 2020

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure

1 reference

12 December 2020

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ013

1 reference

29 July 2017

1 reference

29 July 2017

1 reference