Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Swiss Paediatric Surveillance Unit (SPSU)"'
Autor:
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The
Externí odkaz:
https://doaj.org/article/23370ecb154343929b185a6fd1033613
Autor:
Uka, Anita, Buettcher, Michael, Bernhard-Stirnemann, Sara, Fougère, Yves, Moussaoui, Dehlia, Kottanattu, Lisa, Wagner, Noémie, Zimmermann, Petra, Ritz, Nicole, Swiss Paediatric Surveillance Unit (SPSU), Albisetti, M., Bernet, V., Betti, C., Cachat, F., Caplazi, P., Decker, M-L., Durrer, E., Fluri, S., Gebauer, M., Gehri, M.
Publikováno v:
European Journal of Pediatrics; Mar2022, Vol. 181 Issue 3, p1245-1255, 11p, 4 Charts, 2 Graphs
Autor:
Uka, Anita, Buettcher, Michael, Bernhard‑Stirnemann, Sara, Fougère, Yves, Moussaoui, Dehlia, Kottanattu, Lisa, Wagner, Noémie, Zimmermann, Petra, Ritz, Nicole, Swiss Paediatric Surveillance Unit (SPSU), Bernet, V., Betti, C., Cachat, F., Caplazi, P., Decker, M-L., Durrer, E., Fluri, S., Gebauer, M., Gehri, M., Giannoni, E.
Publikováno v:
European Journal of Pediatrics; Mar2022, Vol. 181 Issue 3, p1257-1257, 1p