Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported
This careful benchmarking exercise indicates that a significant number of individuals at risk for PH symptoms remain undiagnosed. Since these numbers exceed known diagnosed cases of PH, improved screening and diagnosis of this underestimated disease is necessary.
Authors
- Peter C. Harris (ORCID: https://orcid.org/0000-0002-5304-6593)
- Andrea G. Cogal
- John Charles Lieske (ORCID: https://orcid.org/0000-0002-0202-5944)
- Giorgia Mandrile (ORCID: https://orcid.org/0000-0003-0849-2225)
- Veronica Sciannameo (ORCID: https://orcid.org/0000-0002-0499-0131)
- Gill Rumsby (ORCID: https://orcid.org/0000-0002-3223-3752)
- Michelle Glover
Institutions
- Gonzaga University (US)
- Mayo Clinic (US)
- Royal London Hospital (GB)
- Novo Nordisk (United States) (US)
- Mayo Clinic in Arizona (US)
- Torino e-district (IT)
- The London College (GB)
- University College London (GB)
Publication Details
- Journal
- Clinical Kidney Journal
- Published
- 2025-06-18
- DOI
- https://doi.org/10.1093/ckj/sfaf194
- Citations
- 1
- Primary Topic
- Kidney Stones and Urolithiasis Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- American Society of Nephrology
- Novo Nordisk
- National Institutes of Health