CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

por Papizh, Svetlana, Serzhanova, Victoria, Filatova, Alexandra, Skoblov, Mikhail, Tabakov, Vyacheslav, van den Heuvel, Lambert, Levtchenko, Elena, Prikhodina, Larisa
Publicado 2019

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

por Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J.S., Cochat, Pierre, Deschênes, Georges, Harambat, Jérôme, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W., Bacchetta, Justine
Publicado 2022

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

por Metry, Elisabeth L., Garrelfs, Sander F., Peters-Sengers, Hessel, Hulton, Sally-Anne, Acquaviva, Cecile, Bacchetta, Justine, Beck, Bodo B., Collard, Laure, Deschênes, Georges, Franssen, Casper, Kemper, Markus J., Lipkin, Graham W., Mandrile, Giorgia, Mohebbi, Nilufar, Moochhala, Shabbir H., Oosterveld, Michiel J.S., Prikhodina, Larisa, Hoppe, Bernd, Cochat, Pierre, Groothoff, Jaap W.
Publicado 2021

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

por Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph
Publicado 2022

Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression

por Trautmann, Agnes, Seide, Svenja, Lipska-Ziętkiewicz, Beata S., Ozaltin, Fatih, Szczepanska, Maria, Azocar, Marta, Jankauskiene, Augustina, Zurowska, Alexandra, Caliskan, Salim, Saeed, Bassam, Morello, William, Emma, Francesco, Litwin, Mieczyslaw, Tsygin, Alexey, Fomina, Svitlana, Wasilewska, Anna, Melk, Anette, Benetti, Elisa, Gellermann, Jutta, Stajic, Natasa, Tkaczyk, Marcin, Baiko, Sergey, Prikhodina, Larisa, Csaicsich, Dagmar, Medynska, Anna, Krisam, Regina, Breitschwerdt, Heike, Schaefer, Franz
Publicado 2022

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

por Metry, Elisabeth L., Garrelfs, Sander F., Deesker, Lisa J., Acquaviva, Cecile, D’Ambrosio, Viola, Bacchetta, Justine, Beck, Bodo B., Cochat, Pierre, Collard, Laure, Hogan, Julien, Ferraro, Pietro Manuel, Franssen, Casper F.M., Harambat, Jérôme, Hulton, Sally-Anne, Lipkin, Graham W., Mandrile, Giorgia, Martin-Higueras, Cristina, Mohebbi, Nilufar, Moochhala, Shabbir H., Neuhaus, Thomas J., Prikhodina, Larisa, Salido, Eduardo, Topaloglu, Rezan, Oosterveld, Michiel J.S., Groothoff, Jaap W., Peters-Sengers, Hessel
Publicado 2023

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

por Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik, Zanoni, Francesca, Marasa, Maddalena, Turudic, Daniel, Giordano, Mario, Gesualdo, Loreto, Magistroni, Riccardo, Pisani, Isabella, Fiaccadori, Enrico, Reiterova, Jana, Maringhini, Silvio, Morello, William, Montini, Giovanni, Weng, Patricia L., Scolari, Francesco, Saraga, Marijan, Tasic, Velibor, Santoro, Domenica, van Wijk, Joanna A. E., Milošević, Danko, Kawai, Yosuke, Kiryluk, Krzysztof, Pollak, Martin R., Gharavi, Ali, Lin, Fangmin, Simœs e Silva, Ana Cristina, Loos, Ruth J. F., Kenny, Eimear E., Schreuder, Michiel F., Zurowska, Aleksandra, Dossier, Claire, Ariceta, Gema, Drozynska-Duklas, Magdalena, Hogan, Julien, Jankauskiene, Augustina, Hildebrandt, Friedhelm, Prikhodina, Larisa, Song, Kyuyoung, Bagga, Arvind, Cheong, Hae, Ghiggeri, Gian Marco, Vachvanichsanong, Prayong, Nozu, Kandai, Lee, Dongwon, Vivarelli, Marina, Raychaudhuri, Soumya, Tokunaga, Katsushi, Sanna-Cherchi, Simone, Ronco, Pierre, Iijima, Kazumoto, Sampson, Matthew G.
Publicado 2023