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Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.
Brunkhorst M, Brunkhorst L, Martens H, Papizh S, Besouw M, Grasemann C, Turan S, Sikora P, Chromek M, Cornelissen E, Fila M, Lilien M, Allgrove J, Neuhaus TJ, Eltan M, Espinosa L, Schnabel D, Gokce I, González-Rodríguez JD, Khandelwal P, Keijzer-Veen MG, Lechner F, Szczepańska M, Zaniew M, Bacchetta J, Emma F, Haffner D. Brunkhorst M, et al. Among authors: cornelissen e. Kidney Int. 2025 Jan;107(1):116-129. doi: 10.1016/j.kint.2024.08.035. Epub 2024 Oct 24. Kidney Int. 2025. PMID: 39461557 Free article.
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Emma F, Hoff WV, Hohenfellner K, Topaloglu R, Greco M, Ariceta G, Bettini C, Bockenhauer D, Veys K, Pape L, Hulton S, Collin S, Ozaltin F, Servais A, Deschênes G, Novo R, Bertholet-Thomas A, Oh J, Cornelissen E, Janssen M, Haffner D, Ravà L, Antignac C, Devuyst O, Niaudet P, Levtchenko E. Emma F, et al. Among authors: cornelissen e. Kidney Int. 2021 Nov;100(5):1112-1123. doi: 10.1016/j.kint.2021.06.019. Epub 2021 Jul 6. Kidney Int. 2021. PMID: 34237326
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.
Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, Levtchenko E, Ariceta G, Bacchetta J, Capasso G, Jankauskiene A, Miglinas M, Ferraro PM, Montini G, Oh J, Decramer S, Levart TK, Wetzels J, Cornelissen E, Devuyst O, Zurowska A, Pape L, Buescher A, Haffner D, Marcun Varda N, Ghiggeri GM, Remuzzi G, Konrad M, Longo G, Bockenhauer D, Awan A, Andersone I, Groothoff JW, Schaefer F. Bassanese G, et al. Among authors: cornelissen e. Orphanet J Rare Dis. 2021 Jun 2;16(1):251. doi: 10.1186/s13023-021-01872-8. Orphanet J Rare Dis. 2021. PMID: 34078418 Free PMC article.
169 results