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Article

[Adenine phosphoribosyltransferase(APRT) deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1996

Kamatani N

Abstract excerpt

Adenine phosphoribosyltransferase(APRT) deficiency is an autosomal recessive disorder and the homozygotes develop 2,8-dihydroxyadenine(DHA) urolithiasis and, in severe cases, renal failure. The prevalence is higher among the Japanese than other ethnic groups. So far 120 cases have been reported among the Japanese. The disease is classified into 2 types; type I and II are associated with complete and partial...

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Source

Identifiers

PMID: 8976113

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Adenine phosphoribosyltransferase(APRT) deficiency].PMID 8976113Read ↗

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].Semantic proximity Read ↗

[Genotype and genetic diagnosis of APRT deficiency].Semantic proximity Read ↗

[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].Semantic proximity Read ↗

[2,8-dihydroxyadenine urolithiasis: case report and literature review].Semantic proximity Read ↗

Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.Semantic proximity Read ↗

[Adenine phosphoribosyltransferase (APRT) deficiency].Semantic proximity Read ↗

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.Semantic proximity Read ↗

2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.Semantic proximity Read ↗

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.Semantic proximity Read ↗

The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.Semantic proximity Read ↗

Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.Semantic proximity Read ↗

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