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

Late diagnosis of primary hyperoxaluria type III.

Annals of clinical biochemistry - 1 May 2017

Richard Emmanuel, Blouin Jean-Marc, Harambat Jérome, Llanas Brigitte, Bouchet Stéphane, Acquaviva Cécile, de la Faille Renaud

Abstract excerpt

We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose aetiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal concentrations of...

Read the complete abstract on PubMed

Topics

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

Share to Carcinoma, Renal Cell
Share to Delayed Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperoxaluria, Primary

Share to Kidney

Share to Kidney Neoplasms

Share to Nephrectomy

Share to Oxo-Acid-Lyases

Share to Urolithiasis

Source

Identifiers

PMID: 27742850
DOI: 10.1177/0004563216677101

Genes

HOGA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late diagnosis of primary hyperoxaluria type III.PMID 27742850Read ↗

Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.Semantic proximity Read ↗

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

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.Semantic proximity Read ↗

HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.Semantic proximity Read ↗

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary HyperoxaluriaSemantic proximity Read ↗

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

Renal function can be impaired in children with primary hyperoxaluria type 3.Semantic proximity Read ↗

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.Semantic proximity Read ↗

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.Semantic proximity Read ↗

[Genetic aspects of primary hyperoxaluria: diagnostics and treatment].Semantic proximity Read ↗

Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.Semantic proximity Read ↗

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.Semantic proximity Read ↗

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