Article

The Study on the Clinical Phenotype and Function of HPRT1 Gene

2021-12-22

Abstract excerpt

<h4>Background: </h4> Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series of manifestations are caused by abnormal purine metabolism. The typical clinical manifestations are hyperuricemia, growth retardation, mental retardation, short statu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 73f63504-7524-57c8-93e7-914e50add350
DOI: 10.21203/rs.3.rs-1114426/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Study on the Clinical Phenotype and Function of HPRT1 GeneDOI 10.21203/rs.3.rs-1114426/v1Read

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: Case Series and Review of the LiteratureSemantic proximity Read

Novel mutation in HPRT1 causing a splicing error with multiple variations.Semantic proximity Read

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read

Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.Semantic proximity Read

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read

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

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.Semantic proximity Read

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

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndromeSemantic proximity Read

Lesch-Nyhan Syndrome: Models, Theories, and TherapiesSemantic proximity Read

A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.Semantic proximity Read