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Article

Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.

Clinical biochemistry - 1 Jan 2007

Di Pietro Valentina, Perruzza Italia, Amorini Angela Maria, Balducci Alessandro, Ceccarelli Lia, Lazzarino Giuseppe, Barsotti Paola, Giardina Bruno, Tavazzi Barbara

Abstract excerpt

OBJECTIVE: To determine the type of mutation in a patient with clinical diagnosis of suspected APRT deficiency. DESIGN AND METHODS: A 51-year-old male patient, with a clinical history of two prior episodes of renal colic with urinary stone excretion (reported as uric acid stones in the first episode and as calcium oxalate stones in the second), was admitted to the hospital with severe non-oliguric renal failure...

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Source

Identifiers

PMID: 17126311
DOI: 10.1016/j.clinbiochem.2006.09.011

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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