Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Background To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. Aims Description of the NA and EU patient samples and investigation of the prospects of combined and comparative analyses for individuals with U...

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Veröffentlicht in:	Journal of inherited metabolic disease 2019-01, Vol.42 (1), p.93-106
Hauptverfasser:	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, Mew, Nicholas Ah, Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn E., Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Kölker, Stefan, Burgard, Peter, Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J., Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Bari, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L., Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri
Format:	Artikel
Sprache:	eng
Schlagworte:	Ammonium Cohort Studies Comparative analysis Data Analysis Data processing Delayed Diagnosis Diagnosis diagnostic methods Europe Female Humans Infant, Newborn international registry and database Liver transplantation Male Medical screening Neonatal Screening - methods North America Ornithine Ornithine Carbamoyltransferase Deficiency Disease - diagnosis Ornithine Carbamoyltransferase Deficiency Disease - metabolism Patients Phenotypes Rare Diseases Urea Urea - metabolism Urea cycle Disorders Urea Cycle Disorders, Inborn - diagnosis Urea Cycle Disorders, Inborn - metabolism
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