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

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

Kidney international - 1 Aug 2004

van Woerden Christiaan S, Groothoff Jaap W, Wijburg Frits A, Annink Carla, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism with an extensive clinical and genetic heterogeneity. Although over 50 disease-causing mutations have been identified, the relationship between genotype and clinical outcome remains unclear. The aim of this study was to determine this association in order to find clues for improvement of patient care. METHODS: AGXT mutation...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Cohort Studies
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Hyperoxaluria, Primary

Share to Netherlands

Share to Point Mutation

Share to Transaminases

Source

Identifiers

PMID: 15253729
DOI: 10.1111/j.1523-1755.2004.00796.x

Genes

AGXT

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

Clinical implications of mutation analysis in primary hyperoxaluria type 1.PMID 15253729Read ↗

Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Semantic proximity Read ↗

Genetic assessment in primary hyperoxaluria: why it matters.Semantic proximity Read ↗

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.Semantic proximity Read ↗

Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.Semantic proximity Read ↗

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.Semantic proximity Read ↗

Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.Semantic proximity Read ↗

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Semantic proximity Read ↗

Primary hyperoxaluria: genotype-phenotype correlation.Semantic proximity Read ↗

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.Semantic proximity Read ↗

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.Semantic proximity Read ↗

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.Semantic proximity Read ↗

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.Semantic proximity Read ↗

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