(Q36128728)

12 August 2017

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

28 September 2019

Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants (English)

1 reference

12 August 2017

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

28 September 2019

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

28 September 2019

6 references

13 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

28 September 2019

1 reference

28 September 2019

Rosa J Torres

1 reference

12 August 2017

Juan G Puig

series ordinal

1 reference

12 August 2017

H A Jinnah

series ordinal

1 reference

12 August 2017

1 April 2012

7 references

Current Rheumatology Reports

12 August 2017

13 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

28 September 2019

7 references

12 August 2017

13 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

28 September 2019

1 reference

12 August 2017

1 reference

12 August 2017

189-194

1 reference

Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch–Nyhan syndrome

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

The Role of Uric Acid as an Endogenous Danger Signal in Immunity and Inflammation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Uric acid transport and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Attenuated variants of Lesch-Nyhan disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

2 October 2017

Xanthine urolithiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Delineation of the motor disorder of Lesch-Nyhan disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Gout-associated uric acid crystals activate the NALP3 inflammasome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Febuxostat compared with allopurinol in patients with hyperuricemia and gout

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

The biological significance of purine salvage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408650

Excretion of Hypoxanthine and Xanthine in a Genetic Disease of Purine Metabolism

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11926-011-0231-5

Variation in human HPRT and its relationship to neurologic and behavioral manifestations

21 January 2018

1 reference

12 December 2020

Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection

1 reference

12 December 2020

THE EFFECTIVENESS OF THE XANTHINE OXIDASE INHIBITOR ALLOPURINOL IN THE TREATMENT OF GOUT

1 reference

12 December 2020

[On familial gouty diathesis associated with cerebral and renal symptoms in a small child.]

1 reference

12 December 2020

The spectrum of mutations causing HPRT deficiency: an update

1 reference

12 December 2020

Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome

1 reference

12 December 2020

Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Lesch-Nyhan disease and the basal ganglia

1 reference

12 December 2020

On a progressive syndrome of extrapyramidal hypertonia with gouty osteoarthropathies in 2 brothers. (1st case in adults)

1 reference

12 December 2020

Metabolic encephalopathy and nephropathy caused by congenital hyperuricemia

1 reference

12 December 2020

Urinary Metabolites in Congenital Hyperuricosuria

1 reference

12 December 2020

Congenital hyperuricemia in a cerebro-renal form

1 reference

12 December 2020

Congenital hyperuricemia with neurologic, renal and blood disturbances

1 reference

12 December 2020

10.1007/S11926-011-0231-5

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22198833

1 reference