Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria
This pilot study demonstrates the efficacy of a genomic neonatal screening program for PH even in relatively small cohorts.
Authors
- Björn Reusch (ORCID: https://orcid.org/0000-0002-8963-6835)
- Nils Janzen (ORCID: https://orcid.org/0000-0002-2313-3311)
- Lodovica Borghese
- Adam Walli (ORCID: https://orcid.org/0009-0001-8834-6414)
- Sebastian Hegert (ORCID: https://orcid.org/0009-0000-1616-7540)
- Bernd Höppe (ORCID: https://orcid.org/0000-0002-8120-3306)
- Bodo B. Beck (ORCID: https://orcid.org/0000-0003-0495-7670)
- Katharina Hohenfellner
- Cristina Martín-Higueras (ORCID: https://orcid.org/0000-0003-1139-4642)
- Sophie Kaspar (ORCID: https://orcid.org/0000-0002-0844-6432)
- Ella Janzen
Institutions
- Medizinische Hochschule Hannover (DE)
- German Center for Pediatric and Adolescent Rheumatology (DE)
- Laboratory Dr. Wisplinghoff (DE)
- University Hospital Cologne (DE)
- Hannover Re (Germany) (DE)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2024-10-12
- DOI
- https://doi.org/10.1016/j.ekir.2024.10.006
- Citations
- 4
- Primary Topic
- Kidney Stones and Urolithiasis Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.68