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pro vyhledávání: '"Guenther Steidle"'
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
