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Page 1
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Trepiccione F, Walsh SB, Ariceta G, Boyer O, Emma F, Camilla R, Ferraro PM, Haffner D, Konrad M, Levtchenko E, Lopez-Garcia SC, Santos F, Stabouli S, Szczepanska M, Tasic V, Topaloglu R, Vargas-Poussou R, Wlodkowski T, Bockenhauer D. Trepiccione F, et al. Among authors: szczepanska m. Nephrol Dial Transplant. 2021 Aug 27;36(9):1585-1596. doi: 10.1093/ndt/gfab171. Nephrol Dial Transplant. 2021. PMID: 33914889
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Sikora P, Zaniew M, Haisch L, Pulcer B, Szczepańska M, Moczulska A, Rogowska-Kalisz A, Bieniaś B, Tkaczyk M, Ostalska-Nowicka D, Zachwieja K, Hyla-Klekot L, Schlingmann KP, Konrad M. Sikora P, et al. Among authors: szczepanska m. Nephrol Dial Transplant. 2015 Apr;30(4):636-44. doi: 10.1093/ndt/gfu374. Epub 2014 Dec 3. Nephrol Dial Transplant. 2015. PMID: 25477417
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M, Bökenkamp A, Kolbuc M, La Scola C, Baronio F, Niemirska A, Szczepanska M, Bürger J, La Manna A, Miklaszewska M, Rogowska-Kalisz A, Gellermann J, Zampetoglou A, Wasilewska A, Roszak M, Moczko J, Krzemien A, Runowski D, Siten G, Zaluska-Lesniewska I, Fonduli P, Zurrida F, Paglialonga F, Gucev Z, Paripovic D, Rus R, Said-Conti V, Sartz L, Chung WY, Park SJ, Lee JW, Park YH, Ahn YH, Sikora P, Stefanidis CJ, Tasic V, Konrad M, Anglani F, Addis M, Cheong HI, Ludwig M, Bockenhauer D. Zaniew M, et al. Among authors: szczepanska m. Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94. doi: 10.1093/ndt/gfw350. Nephrol Dial Transplant. 2018. PMID: 27708066
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium. Lipska-Ziętkiewicz BS, et al. Among authors: szczepanska m. PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017. PLoS One. 2017. PMID: 28796785 Free PMC article.
Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease.
Lerch C, Shroff R, Wan M, Rees L, Aitkenhead H, Kaplan Bulut I, Thurn D, Karabay Bayazit A, Niemirska A, Canpolat N, Duzova A, Azukaitis K, Yilmaz E, Yalcinkaya F, Harambat J, Kiyak A, Alpay H, Habbig S, Zaloszyc A, Soylemezoglu O, Candan C, Rosales A, Melk A, Querfeld U, Leifheit-Nestler M, Sander A, Schaefer F, Haffner D; 4C study consortium; ESPN CKD-MBD working group. Lerch C, et al. Nephrol Dial Transplant. 2018 Dec 1;33(12):2208-2217. doi: 10.1093/ndt/gfy012. Nephrol Dial Transplant. 2018. PMID: 29481636 Clinical Trial.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium; Kleta R, Schaefer F, Bockenhauer D. Lopez-Garcia SC, et al. Among authors: szczepanska m. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium. De Rechter S, et al. Kidney Int Rep. 2019 May 29;4(9):1271-1284. doi: 10.1016/j.ekir.2019.05.015. eCollection 2019 Sep. Kidney Int Rep. 2019. PMID: 31517146 Free PMC article.
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, Gokce I, König J, Kowalewska C, Massella L, Mastrangelo A, Mekahli D, Pape L, Patzer L, Potemkina A, Schalk G, Schild R, Shroff R, Szczepanska M, Taranta-Janusz K, Tkaczyk M, Weber LT, Wühl E, Wurm D, Wygoda S, Zagozdzon I, Dötsch J, Oh J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: szczepanska m. Sci Rep. 2020 Sep 29;10(1):16025. doi: 10.1038/s41598-020-71956-1. Sci Rep. 2020. PMID: 32994492 Free PMC article.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: szczepanska m. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD.
Burgmaier K, Kilian S, Arbeiter K, Atmis B, Büscher A, Derichs U, Dursun I, Duzova A, Eid LA, Galiano M, Gessner M, Gokce I, Haeffner K, Hooman N, Jankauskiene A, Körber F, Longo G, Massella L, Mekahli D, Miloševski-Lomić G, Nalcacioglu H, Rus R, Shroff R, Stabouli S, Weber LT, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Dötsch J, Schaefer F, Liebau MC; ARegPKD Consortium. Burgmaier K, et al. Sci Rep. 2021 Nov 4;11(1):21677. doi: 10.1038/s41598-021-00523-z. Sci Rep. 2021. PMID: 34737334 Free PMC article.
237 results