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Article

Genetic defects underlying renal stone disease.

International journal of surgery (London, England) - 1 Dec 2016

Rumsby Gill

Abstract excerpt

Renal stones are common and are usually secondary to risk factors affecting the solubility of substances in the urinary tract. Primary, that is genetic, causes are rare but nevertheless are important to recognise so that appropriate treatments can be instigated and the risks to other family members acknowledged. A brief overview of the investigation of renal stones from a biochemical point of view is presented...

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Topics

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Share to Acidosis, Renal Tubular
Share to Adenine Phosphoribosyltransferase
Share to APRT gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Hyperoxaluria, Primary

Share to Kidney Calculi

Share to Metabolism, Inborn Errors

Share to Urolithiasis

Source

Identifiers

PMID: 27838384
DOI: 10.1016/j.ijsu.2016.11.015

Genes

APRT

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.

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