Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ulrike Treikauskas"'
Autor:
Christina Nießl, Anne-Laure Boulesteix, Jun Oh, Katja Palm, Peter Schlingmann, Simone Wygoda, Dieter Haffner, Elke Wühl, Burkhard Tönshoff, Anja Buescher, Heiko Billing, Bernd Hoppe, Matthias Zirngibl, Matthias Kettwig, Kristina Moeller, Birgit Acham-Roschitz, Klaus Arbeiter, Martin Bald, Marcus Benz, Matthias Galiano, Ulrike John-Kroegel, Guenter Klaus, Daniela Marx-Berger, Katja Moser, Dirk Mueller, Ludwig Patzer, Martin Pohl, Barbara Seitz, Ulrike Treikauskas, Rodo O. von Vigier, William Allen Gahl, Katharina Hohenfellner
Infantile nephropathic cystinosis, due to impaired transport of cystine out of lysosomes, occurs with an incidence of 1 in 100–200,000 live births. It is characterized by renal Fanconi syndrome in the first year of life and glomerular dysfunction p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f153907d5bb7c1cde126a1c1be60a4b3
https://www.ncbi.nlm.nih.gov/pubmed/35835062
https://www.ncbi.nlm.nih.gov/pubmed/35835062
Autor:
Erik Harms, Susanne Bechtold, Nadine Herzig, Malcolm Lewis, Justine Bacchetta, William A. Gahl, Alexey Tsygin, Ewa Elenberg, Fernando Santos, Oliver Greil, Noelle Cassidy, Karl P. Schlingmann, Neveen A. Soliman, Atif Awan, Gema Ariceta, Frank Rauch, Dieter Haffner, Elena Levtchenko, Aude Servais, Jozef Zustin, Bernd Hoppe, Rezan Topaloglu, Galina Nesterova, Koenraad Veys, Carsten Bergmann, Ulrike Treikauskas, Christian Koeppl, Geroges Deschenes, Katharina Hohenfellner, Clodagh Sweeney, Guenther Steidle, Rodo O. von Vigier
Publikováno v:
Journal of Inherited Metabolic Disease
Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c24db0ff1f1e1c5291d9fb8fc4ad9d
https://doi.org/10.1002/jimd.12134
https://doi.org/10.1002/jimd.12134
Autor:
Christian Koeppel, Pozza Susanne Bechtold-Dalla, Erik Harms, Ulrike Treikauskas, Katharina Hohenfellner, C. Knerr, Nadine Herzig, I. Landthaler, G. Steidle, Katharina Vill, C Prilinger, Heike Holla, Sonja Froschauer
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::181e8ac5754f39d4a74c9b78e0c8c63f
https://doi.org/10.1530/boneabs.7.p156
https://doi.org/10.1530/boneabs.7.p156
Autor:
K. Hohenfellner, R. Aghayan–Ugurluoglu, T. Marquardt, K. Zerell, O. Greil, M. Passow, G. Steidle, A. Rausch, H. Hintner, R. Brangenberg, Nadine Herzig, I. Landthaler, U. Römer, E. Harms, C. Köppl, Ulrike Treikauskas, C. Knerr, L. Treguer
Publikováno v:
Nieren- und Hochdruckkrankheiten. 45:432-438
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07493404a3cc24cf0fd0abaa42401fad
https://doi.org/10.5414/nhx01812
https://doi.org/10.5414/nhx01812
Autor:
Hohenfellner, Katharina, Rauch, Frank, Ariceta, Gema, Awan, Atif, Bacchetta, Justine, Bergmann, Carsten, Bechtold, Susanne, Cassidy, Noelle, Deschenes, Geroges, Elenberg, Ewa, Gahl, William A., Greil, Oliver, Harms, Erik, Herzig, Nadine, Hoppe, Bernd, Koeppl, Christian, Lewis, Malcolm A., Levtchenko, Elena, Nesterova, Galina, Santos, Fernando
Publikováno v:
Journal of Inherited Metabolic Disease; Sep2019, Vol. 42 Issue 5, p1019-1029, 11p