Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Autor: Alper Soylu, Elke Wühl, Max C. Liebau, Guillaume Dorval, Wanja Bernhardt, Rukshana Shroff, Salim Caliskan, Laura Massella, Gordana Miloševski-Lomić, Ludwig Patzer, Juan David Gonzalez Rodriguez, Klaus Zerres, Katarzyna Taranta-Janusz, Francisco de la Cerda Ojeda, Bahriye Atmis, Bodo B. Beck, Jens König, Nadejda Ranguelov, Claudia Kowalewska, Jörg Dötsch, Florian Erger, Augustina Jankauskiene, Alberto Caldas Afonso, Markus Feldkoetter, Svetlana Papizh, Olivia Boyer, Jérôme Harambat, Franziska Grundmann, Matthias Galiano, Jun Oh, Claire Dossier, Jacques Lombet, Dieter Haffner, Gema Ariceta, Raphael Schild, Ismail Dursun, Ibrahim Gökce, Stella Stabouli, Marcus R. Benz, Rina Rus, Martin Bald, Michaela Gessner, Mieczysław Litwin, Neveen A. Soliman, Djalila Mekahli, Francesco Emma, Nurver Akinci, Loai A. Eid, Cengiz Candan, Alev Yilmaz, Anja Buescher, Lale Sever, Barbara Uetz, Julia Thumfart, Donald Wurm, Beata Bienias, Nadina Ortiz-Bruechle, Ali Duzova, Germana Longo, Przemysław Sikora, Oliver Gross, Susanne Schaefer, Yılmaz Tabel, Sabine Ponsel, Karsten Häffner, Franz Schaefer, Antonio Mastrangelo, Ana Teixeira, Bruno Ranchin, Günter Klaus, Maria Szczepańska, Claudia Dafinger, Andreea Rachisan, Monika Miklaszewska, Aurélie De Mul, Hulya Nalcacioglu, Sevgi Mir, Denis Morin, Katarzyna Zachwieja, Bärbel Lange-Sperandio, William Morello, Marc Fila, Jan Halbritter, Houweyda Jilani, Ute Derichs, Aurelia Morawiec-Knysak, Laure Collard, Małgorzata Stańczyk, Felix Lechner, Francesca Mencarelli, Jakub Zieg, Oliver Dunand, Klaus Arbeiter, Kathrin Burgmaier, Carsten Bergmann, Ilona Zagozdzon, Tomáš Seeman, Larisa Prikhodina, Nakysa Hooman, Lutz T. Weber, Björn Buchholz, Leonie Brinker, Nathalie Godefroid, Simone Wygoda, Hagen Staude

Publikováno v: Kidney international, Vol. 100, no.3, p. 650-659 (2021)

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8d4bc309906dd46993a944c7188b5c
https://hdl.handle.net/20.500.12831/6664

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Autor: Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Björn Buchholz, Rainer Buescher, Karsten Häffner, Martin Pohl, Oliver Gross, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus Benz, Silke Schmidt, Christina Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotios Papachristou, Francesco Emma, Rimante Cerkauskiene, Karolis Azukaitis, Anna Wasilewska, Irena Balasz-Chmielewska, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Marcin Zaniew, Ania Niemirska, Jolanta Antoniewicz, Justyna Lesiak, Alberto Caldas Afonso, Ana Teixeira, Gordana Milosevski-Lomic, Dusan Paripović, Amira Peco-Antic, Svetlana Papizh, Aysun Karabay Bayazit, Ali Anarat, Alper Soylu, Salih Kavukcu, Cengiz Candan, Salim Caliskan, Nur Canpolat, Sevinc Emre, Harika Alpay, Nurver Akinci, Secil Conkar, Hakan M. Poyrazoglu, Ruhan Dusunsel

OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6cfde1e35902f2f1dd74b9ce09f4a8
https://hdl.handle.net/20.500.12605/19675

Physiological Demand Of Children And Adolescents Before And After Maintenance Hemodialysis

Autor: Bettina Schaar, Markus Feldkoetter, Julia M. Nonn, Bernd Hoppe

Publikováno v: Medicine & Science in Sports & Exercise. 43:457

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1aea32cfdb1dfd8ca4fdfdf39a176f1b
https://doi.org/10.1249/01.mss.0000401263.28950.be