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Protein trafficking defects in inherited kidney diseases.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv33, doi. 10.1093/ndt/gfu231
By:
- Schaeffer, Céline;
- Creatore, Anna;
- Rampoldi, Luca
Publication type:
Article
Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv55, doi. 10.1093/ndt/gfu195
By:
- Bonny, Olivier;
- Bochud, Murielle
Publication type:
Article
Spanish guidelines for the management of autosomal dominant polycystic kidney disease*.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv95
By:
- Ars, Elisabet;
- Bernis, Carmen;
- Fraga, Gloria;
- Martínez, Víctor;
- Martins, Judith;
- Ortiz, Alberto;
- Rodríguez-Pérez, José Carlos;
- Sans, Laia;
- Torra, Roser
Publication type:
Article
Genetic diseases of renal phosphate handling.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv45, doi. 10.1093/ndt/gfu217
By:
- Wagner, Carsten A.;
- Rubio-Aliaga, Isabel;
- Biber, Jürg;
- Hernando, Nati
Publication type:
Article
Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA–EDTA Registry.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv1, doi. 10.1093/ndt/gfu030
By:
- Wühl, Elke;
- van Stralen, Karlijn J.;
- Wanner, Christoph;
- Ariceta, Gema;
- Heaf, James Goya;
- Bjerre, Anna K.;
- Palsson, Runolfur;
- Duneau, Gabrielle;
- Hoitsma, Andries J.;
- Ravani, Pietro;
- Schaefer, Franz;
- Jager, Kitty J.
Publication type:
Article
The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv9, doi. 10.1093/ndt/gfu094
By:
- Parker, Samantha
Publication type:
Article
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi–Bickel syndrome: new pathophysiology insights.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv113, doi. 10.1093/ndt/gfu018
By:
- Mihout, Fabrice;
- Devuyst, Olivier;
- Bensman, Albert;
- Brocheriou, Isabelle;
- Ridel, Christophe;
- Wagner, Carsten A.;
- Mohebbi, Nilufar;
- Boffa, Jean-Jacques;
- Plaisier, Emmanuelle;
- Ronco, Pierre
Publication type:
Article
Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv124, doi. 10.1093/ndt/gfu028
By:
- Gross, Oliver;
- Perin, Laura;
- Deltas, Constantinos
Publication type:
Article
A stepwise approach for effective management of chronic pain in autosomal-dominant polycystic kidney disease.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv142
By:
- Casteleijn, Niek F.;
- Visser, Folkert W.;
- Drenth, Joost P.H.;
- Gevers, Tom J.G.;
- Groen, Gerbrand J.;
- Hogan, Marie C.;
- Gansevoort, Ron T.
Publication type:
Article
Sudden death due to subarachnoid haemorrhage in an infant with autosomal dominant polycystic kidney disease.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv121, doi. 10.1093/ndt/gfu014
By:
- Thong, Kah Mean;
- Ong, Albert C.M.
Publication type:
Article
Building a network of ADPKD reference centres across Europe: the EuroCYST initiative.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv26, doi. 10.1093/ndt/gfu091
By:
- Petzold, Katja;
- Gansevoort, Ron T.;
- Ong, Albert C.M.;
- Devuyst, Olivier;
- Rotar, Laura;
- Eckardt, Kai-Uwe;
- Köttgen, Anna;
- Pirson, Yves;
- Remuzzi, Giuseppe;
- Sandford, Richard;
- Tesar, Vladimir;
- Ecder, Tevfik;
- Chaveau, Dominique;
- Torra, Roser;
- Budde, Klemens;
- Le Meur, Yannick;
- Wüthrich, Rudolf P.;
- Serra, Andreas L.
Publication type:
Article
Novel aspects of atypical haemolytic uraemic syndrome and the role of eculizumab.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv131, doi. 10.1093/ndt/gfu235
By:
- Verhave, Jacobien C.;
- Wetzels, Jack F.M.;
- van de Kar, Nicole C.A.J.
Publication type:
Article
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv80, doi. 10.1093/ndt/gfu071
By:
- Caridi, Gianluca;
- Lugani, Francesca;
- Dagnino, Monica;
- Gigante, Maddalena;
- Iolascon, Achille;
- Falco, Mariateresa;
- Graziano, Claudio;
- Benetti, Elisa;
- Dugo, Mauro;
- Del Prete, Dorella;
- Granata, Antonio;
- Borracelli, Donella;
- Moggia, Elisabetta;
- Quaglia, Marco;
- Rinaldi, Rita;
- Gesualdo, Loreto;
- Ghiggeri, Gian Marco
Publication type:
Article
Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe: prevalence and survival—an analysis of data from the ERA-EDTA Registry.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv15
By:
- Spithoven, Edwin M.;
- Kramer, Anneke;
- Meijer, Esther;
- Orskov, Bjarne;
- Wanner, Christoph;
- Abad, Jose M.;
- Aresté, Nuria;
- Alonso de la Torre, Ramón;
- Caskey, Fergus;
- Couchoud, Cécile;
- Finne, Patrik;
- Heaf, James;
- Hoitsma, Andries;
- de Meester, Johan;
- Pascual, Julio;
- Postorino, Maurizio;
- Ravani, Pietro;
- Zurriaga, Oscar;
- Jager, Kitty J.;
- Gansevoort, Ron T.
Publication type:
Article
Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction?
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv117, doi. 10.1093/ndt/gfu075
By:
- Demoulin, Nathalie;
- Aydin, Selda;
- Cosyns, Jean-Pierre;
- Dahan, Karin;
- Cornet, Georges;
- Auberger, Ines;
- Loffing, Johannes;
- Devuyst, Olivier
Publication type:
Article
Nephropathic cystinosis: an international consensus document.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090
By:
- Emma, Francesco;
- Nesterova, Galina;
- Langman, Craig;
- Labbé, Antoine;
- Cherqui, Stephanie;
- Goodyer, Paul;
- Janssen, Mirian C.;
- Greco, Marcella;
- Topaloglu, Rezan;
- Elenberg, Ewa;
- Dohil, Ranjan;
- Trauner, Doris;
- Antignac, Corinne;
- Cochat, Pierre;
- Kaskel, Frederick;
- Servais, Aude;
- Wühl, Elke;
- Niaudet, Patrick;
- Van't Hoff, William;
- Gahl, William
Publication type:
Article
Contribution of genetics and epigenetics to progression of kidney fibrosis.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv72, doi. 10.1093/ndt/gft025
By:
- Tampe, Björn;
- Zeisberg, Michael
Publication type:
Article
How simple are ‘simple renal cysts’?
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv106, doi. 10.1093/ndt/gfu106
By:
- Simms, Roslyn J.;
- Ong, Albert C. M.
Publication type:
Article
Inherited disorders of renal hypomagnesaemia.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv63, doi. 10.1093/ndt/gfu198
By:
- Konrad, Martin;
- Schlingmann, Karl Peter
Publication type:
Article

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