Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 7.

Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi-Vici, Carlo; Dobbelaere, Dries; Garcia-Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Ah Mew, Nicholas; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter (2018). Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. Journal of Inherited Metabolic Disease:Epub ahead of print.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan; E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 39(5):661-672.

Phenylketonuria and BH4 Deficiencies. Edited by: Blau, Nenad; Burlina, Alberto B; Burton, Barbara K; Levy, Harvey L; Longo, Nicola; MacDonald, Anita; Martinez, Aurora; van Spronsen, Francjan J; Thöny, Beat (2016). Bremen: UNI-MED Verlag AG.

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; et al (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of Inherited Metabolic Disease, 38(6):1059-1074.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

Camp, Kathryn M; Parisi, Melissa A; Acosta, Phyllis B; Berry, Gerard T; Bilder, Deborah A; Blau, Nenad; Bodamer, Olaf A; Brosco, Jeffrey P; Brown, Christine S; Burlina, Alberto B; Burton, Barbara K; Chang, Christine S; Coates, Paul M; Cunningham, Amy C; Dobrowolski, Steven F; Ferguson, John H; Franklin, Thomas D; Frazier, Dianne M; Grange, Dorothy K; Greene, Carol L; Groft, Stephen C; Harding, Cary O; Howell, R Rodney; Huntington, Kathleen L; Hyatt-Knorr, Henrietta D; Jevaji, Indira P; Levy, Harvey L; Lichter-Konecki, Uta; Lindegren, Mary Lou; Lloyd-Puryear, Michele A; Matalon, Kimberlee; MacDonald, Anita; McPheeters, Melissa L; Mitchell, John J; Mofidi, Shideh; Moseley, Kathryn D; Mueller, Christine M; Mulberg, Andrew E; Nerurkar, Lata S; Ogata, Beth N; Pariser, Anne R; Prasad, Suyash; Pridjian, Gabriella; Rasmussen, Sonja A; Reddy, Uma M; Rohr, Frances J; Singh, Rani H; Sirrs, Sandra M; Stremer, Stephanie E; Tagle, Danilo A; Thompson, Susan M; Urv, Tiina K; Utz, Jeanine R; van Spronsen, Francjan; Vockley, Jerry; Waisbren, Susan E; Weglicki, Linda S; White, Desirée A; Whitley, Chester B; Wilfond, Benjamin S; Yannicelli, Steven; Young, Justin M (2014). Phenylketonuria scientific review Conference: State of the science and future research needs. Molecular Genetics and Metabolism, 112(2):87-122.

Del Rizzo, Monica; Burlina, Alessandro P; Sass, Jörn Oliver; Beermann, Frauke; Zanco, Chiara; Cazzorla, Chiara; Bordugo, Andrea; Giordano, Laura; Manara, Renzo; Burlina, Alberto B (2013). Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. Molecular Genetics and Metabolism, 108(4):263-266.

This list was generated on Mon Jun 17 12:30:15 2019 CEST.