Zobrazeno 1 - 4
of 4
pro vyhledávání: '"William G. van't Hoff"'
Autor:
Sandro, Rossetti, Vickie J, Kubly, Mark B, Consugar, Katharina, Hopp, Sushmita, Roy, Sharon W, Horsley, Dominique, Chauveau, Lesley, Rees, T Martin, Barratt, William G, van't Hoff, Patrick, Niaudet, W Patrick, Niaudet, Vicente E, Torres, Peter C, Harris
Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely diagnosed in utero with enlarged, echogenic kidneys. Somatic mutations are t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f172a76abe05fd1c8a61573b7fa72a5b
https://europepmc.org/articles/PMC2813773/
https://europepmc.org/articles/PMC2813773/
Publikováno v:
Urological research. 37(3)
The primary hyperoxalurias, PH1 and PH2, are inherited disorders caused by deficiencies of alanine:glyoxylate aminotransferase and glyoxylate reductase, respectively. Mutations in either of these enzymes leads to endogenous oxalate overproduction pri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d2fe396d24cbb90fd7f90918ec7a382
https://pubmed.ncbi.nlm.nih.gov/19283374
https://pubmed.ncbi.nlm.nih.gov/19283374
Autor:
Juan J. Alcon, Stephen I. Alexander, Joao Guilherme Amaral, Alessandro Amore, Sharon Phillips Andreoli, Walter S. Andrews, Christoph Aufricht, Fred E. Avni, Arvind Bagga, Aysin Bakkaloglu, Donald L. Batisky, Mary Bauman, Jan Ulrich Becker, Carsten Bergmann, Alberto Bettinelli, Mario G. Bianchetti, Douglas L. Blowey, Detlef Böckenhauer, Patrick D. Brophy, Deepa H. Chand, Pierre Cochat, Bairbre Connolly, Rosanna Coppo, Jonathan C. Craig, Dagmar Csaicsich, Laura Cuzzolin, Vikas R. Dharnidharka, Anne M. Durkan, Allison A. Eddy, Thomas Eggermann, Vassilios Fanos, Guido Filler, Geoffrey M. Fleming, Susan L. Furth, Rasheed Gbadegesin, Denis F. Geary, Arlene C. Gerson, Debbie S. Gipson, Stuart L. Goldstein, Manjula Gowrishankar, Nicole Graf, Larry A. Greenbaum, Jaap W. Groothoff, Sanjeev Gulati, Charlotte Hadtstein, Dieter Haffner, Michelle Hall, Christine Harrison, Diane Hébert, Elisabeth M. Hodson, Stephen Hooper, Bernd Hoppe, Daljit K. Hothi, Peter F. Hoyer, Julie R. Ingelfinger, Khalid Ismaili, Clifford E. Kashtan, Yukihiko Kawasaki, Antoine E. Khoury, Martin Konrad, Alok Kumar, Valerie Langlois, Perry Yew-Weng Lau, Ernst Leumann, Xiaomei Li, Christoph Licht, Ruth Lim, Armando J. Lorenzo, Kera E. Luckritz, Empar Lurbe, John D. Mahan, Robert Mak, Stephen D. Marks, M. Patricia Massicotte, Ranjiv Mathews, Tej K. Mattoo, Heather Maxwell, Otto Mehls, Anette Melk, Michael Mengel, Shina Menon, Dawn S. Milliner, Mark Mitsnefes, Alicia M. Neu, Patrick Niaudet, Richard Nissel, Beate Ermisch-Omran, Heymut Omran, Seza Ozen, Francesco Perfumo, Veronique Phan, Maury Pinsk, Tino D. Piscione, Uwe Querfeld, Ian John Ramage, Josep Redon, Lisa A. Robinson, Renee F. Robinson, Norman D. Rosenblum, Remi Salomon, Gagandeep K. Sandhu, Franz Schaefer, Claus P. Schmitt, Cornelis H. Schröder, Donna Secker, Afroze Ramzan Sherali, Jennifer Dart Yin Sihoe, William E. Smoyer, Hitoshi Suzuki, Velibor Tasic, Burkhard Tönshoff, Jeffrey Traubici, Kjell Tullus, William G. van't Hoff, Priya S. Verghese, Enrico Eugenio Verrina, Udo Vester, Sunita Vohra, Siegfried Waldegger, Bradley A. Warady, Aoife Waters, Nicholas J.A. Webb, Stefanie Weber, Gabrielle Williams, Sik-Nin Wong, Elke Wühl, Li Yang, Hui-Kim Yap, Chung-Kwong Yeung, Verna Yiu, Klaus Zerres, Lothar Bernd Zimmerhackl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee8b24ea1c4632a5e6ccf89c04de9757
https://doi.org/10.1016/b978-0-323-04883-5.50004-0
https://doi.org/10.1016/b978-0-323-04883-5.50004-0