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

Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.

Molecular diagnosis & therapy - 1 Jan 2024

Mou Lijun, Zhu Lina, Chen Xujiao, Hu Ying, Zhu Hong, Xu Ying

Abstract excerpt

BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid reabsorption and subsequent profound hypouricemia, occurs mainly due to variants in SLC22A12 or SLC2A9. Only anecdotal cases and one small-scale RHUC screening study have been reported in the Chinese population. METHODS: A total of 19 patients with RHUC from 17 unrelated families were recruited from our center....

Read the complete abstract on PubMed

Topics

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

Share to Acute Kidney Injury
Share to China
Share to Glucose Transport Proteins, Facilitative

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypercalciuria

Share to Organic Anion Transporters

Share to Organic Cation Transport Proteins

Share to Renal Tubular Transport, Inborn Errors

Share to Urinary Calculi

Source

Identifiers

PMID: 37971623
DOI: 10.1007/s40291-023-00683-w

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

Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.PMID 37971623Read ↗

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.Semantic proximity Read ↗

Idiopathic renal hypouricemia: A case report and literature review.Semantic proximity Read ↗

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.Semantic proximity Read ↗

Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.Semantic proximity Read ↗

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.Semantic proximity Read ↗

A novel mutation in a patient with familial renal hypouricemia type 2.Semantic proximity Read ↗

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma PopulationSemantic proximity Read ↗

Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.Semantic proximity Read ↗

Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.Semantic proximity Read ↗

Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).Semantic proximity Read ↗

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.Semantic proximity Read ↗

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposesSemantic proximity Read ↗

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