Universität zu Köln

Journal Article

De Rechter, Stephanie, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V, Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V, Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I, Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, Ms, Giani, M., Giordano, M., Girisgen, I, Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I, Gonzalez, E., Gokce, I, Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Ilanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I, Koenig, J., Krid, S., Krug, P., Kwon, V, La Manna, A., Leroy, V, Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., McCarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I, Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuehl, E., Yildirim, Z. Y., Yuksel, S. and Zachwieja, K. (2019). ADPedKD: A Global Online Platform on the Management of Children With ADPKD. Kidney Int. Rep., 4 (9). S. 1271 - 1285. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Gimpel, Charlotte ORCID: 0000-0003-1296-9081, Bergmann, Carsten, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko ORCID: 0000-0001-7503-7893, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser ORCID: 0000-0001-8714-2332, Weber, Stefanie, Winyard, Paul J. D. and Schaefer, Franz (2019). International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat. Rev. Nephrol., 15 (11). S. 713 - 727. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1759-507X

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo ORCID: 0000-0001-6133-1899, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane ORCID: 0000-0001-6984-762X, Gil-Pena, Helena, Koster-Kamphuis, Linda ORCID: 0000-0002-9971-995X, La Scola, Claudio ORCID: 0000-0002-2644-7447, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter ORCID: 0000-0002-5584-2622, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., Koenig, Jens, Taroni, Francesca, Thumfart, Julia ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse ORCID: 0000-0002-3658-8622, Belkevich, Anna, Vargas-Poussou, Rosa ORCID: 0000-0002-4169-0680, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia ORCID: 0000-0002-3957-1359, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie ORCID: 0000-0002-6323-6673, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J., Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra ORCID: 0000-0003-3092-7790, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J., Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan and Mohebbi, Nilufar (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol. Dial. Transplant., 34 (6). S. 981 - 992. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am. J. Hum. Genet., 103 (5). S. 808 - 817. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario ORCID: 0000-0001-6098-3991, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet ORCID: 0000-0002-4181-2676, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander ORCID: 0000-0001-9530-4848, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Lichter-Konecki, Uta, Gahl, William A., Unwin, Robert J., Warth, Richard ORCID: 0000-0001-6084-0659 and Kleta, Robert (2018). Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. J. Am. Soc. Nephrol., 29 (7). S. 1849 - 1859. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Garcia, Sergio Camilo Lopez, Emma, Francesco, Walsh, Stephen, Fila, Marc, Hooman, Nakysa, Marcin, Zaniew, Bertholet-thomas, Aurelia, Colussi, Giacomo, Ebner, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Nevem A., Ariceta, Ciema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor ORCID: 0000-0002-3377-1245, Tsygin, Alexey, Demmer, Stephan, Gil-pena, Helena, Koster-Kamphuis, Linda ORCID: 0000-0002-9971-995X, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Tmka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela, Konig, Jens, Taroni, Francesca, Thumfart, Julia ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuhl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Coskun, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallen, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Consortium, Drta, Kleta, Robert, Schaefer, Franz and Bockenhauer, Detlef ORCID: 0000-0001-5878-941X (2018). LONG-TERM OUTCOME AND TREATMENT PRACTICES IN DISTAL RENALTUBULAR ACIDOSIS. Pediatr. Nephrol., 33 (10). S. 1817 - 1818. NEW YORK: SPRINGER. ISSN 1432-198X

Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung ORCID: 0000-0002-8741-6177, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A. ORCID: 0000-0003-1881-3782, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P. and Hildebrandt, Friedhelm (2016). Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int., 89 (2). S. 468 - 476. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Guay-Woodford, Lisa M., Bissler, John J., Braun, Michael C., Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Cadnapaphornchai, Melissa A., Dell, Katherine M., Kerecuk, Larissa, Liebau, Max C., Alonso-Peclet, Maria H., Shneider, Benjamin, Emre, Sukru, Heller, Theo, Kamath, Binita M., Murray, Karen F., Moise, Kenneth, Eichenwald, Eric E., Evans, Jacquelyn, Keller, Roberta L., Wilkins-Haug, Louise, Bergmann, Carsten, Gunay-Aygun, Meral, Hooper, Stephen R., Hardy, Kristina K., Hartung, Erum A., Streisand, Randi, Perrone, Ronald and Moxey-Mims, Marva ORCID: 0000-0001-8542-9313 (2014). Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference. J. Pediatr., 165 (3). S. 611 - 618. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6833