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

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 2008

Taniguchi Atsuo

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder that causes 2,8-dihydroxyadenine (DHA) urolithiasis. Based on the level of residual enzyme activity in cell extracts, two types of APRT deficiency have been identified. Type I is complete enzyme deficiency. Type II shows residual activity in cell lysates, but enzyme activity is not demonstrable in intact cells. Patients with type II have at...

Read the complete abstract on PubMed

Topics

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

Share to Purines
Share to Adenine
Share to Adenine Phosphoribosyltransferase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Alleles

Share to Asian People

Share to Genotype

Share to Mutation

Share to Urolithiasis

Source

Identifiers

PMID: 18409532

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].PMID 18409532Read ↗

[Adenine phosphoribosyltransferase(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 ↗

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

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

Adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

[Adenine phosphoribosyltransferase deficiency].Semantic proximity Read ↗

2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.Semantic proximity Read ↗

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

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

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