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

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.

BMC nephrology - 15 Jun 2017

Mbarek Ibtihel Benhaj, Mdimeg Saoussen, Moussa Amira, Zellama Dorsaf, Kaarout Hayat, Abdelmoula Jaouida, Achour Abdellatif, Abroug Saoussen, Omezzine Asma, Bouslama Ali

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS: Common mutations in AGXT were tested using PCR/RFLP technique in 111...

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 Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperoxaluria, Primary

Share to Infant

Share to Pedigree

Share to Transaminases

Share to Treatment Outcome

Share to Tunisia

Source

Open in PubMed Open full text

Identifiers

PMID: 28619084
DOI: 10.1186/s12882-017-0612-8
PMCID: PMC5472968

Genes

AGXT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.PMID 28619084Read ↗

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

[Primary hyperoxaluria in children in central Tunisia].Semantic proximity Read ↗

Untitled literature recordSemantic proximity Read ↗

Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.Semantic proximity Read ↗

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.Semantic proximity Read ↗

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.Semantic proximity Read ↗

[Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases].Semantic proximity Read ↗

Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence.Semantic proximity Read ↗

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

[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder].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 ↗

HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.Semantic proximity Read ↗

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