Associated Papers
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
38544324 (PubMed )
Supplement: gfae074_Supplemental_Files.zip › Suppl_Table_2.xlsx › Suppl_Variant_Table
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.
Petzold F et al.
Nutrients, 2023
37432176 (PubMed )
Supplement: nutrients-15-02081-s001.zip › nutrients-2345107-supplementary.pdf
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Brazier F et al.
Scientific Reports, 2023
How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?
Tostivint IN et al.
Urolithiasis, 2022
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M et al.
Kidney International, 2019
Select a paper to view details