Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.

Molecular genetics and metabolism - 1 Aug 2014

Fu Rong, Chen Chung-Jen, Jinnah H A

Abstract excerpt

Lesch-Nyhan disease and its attenuated variants are caused by deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt). All patients exhibit excessive production of uric acid, which increases the risk for nephrolithiasis, renal failure, gouty arthritis and tophi. The mildest phenotype includes only problems related to overproduction of uric acid. The most severe clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Behavior
Share to Biochemical and Molecular Research
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HIV/AIDS drug development and treatment

Share to Hypoxanthine Phosphoribosyltransferase

Share to Lesch-Nyhan Syndrome

Share to Mutation

Share to Uric Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 24930028
DOI: 10.1016/j.ymgme.2014.05.012
PMCID: PMC4122630

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.PMID 24930028Read ↗

Attenuated variants of Lesch-Nyhan disease.Semantic proximity Read ↗

Lesch-Nyhan disease.Semantic proximity Read ↗

Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated VariantsSemantic proximity Read ↗

The spectrum of mutations causing HPRT deficiency: an update.Semantic proximity Read ↗

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.Semantic proximity Read ↗

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.Semantic proximity Read ↗

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiencySemantic proximity Read ↗

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Semantic proximity Read ↗

Lesch-Nyhan Disease.Semantic proximity Read ↗

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Semantic proximity Read ↗

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.