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

Autor: Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leao, Vara, Roshni, Mew, Nicholas Ah., Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Koelker, Stefan, Burgard, Peter, Bloxam, Sondra, Brody, Linnea, Caspi, Liora, Elsbecker, Sara, Fierro, Luca, Lynn, Audrey, Mullins, Mary, Mutze, Ulrike, Papaleo, Cassandra, Payan, Irma, Simpson, Kara, Singer, Rebecca, Wallis, Kimberly, Alber, Fabienne Dietrich, Babikian, Talin, Bender, Heidi, Boys, Christopher, Breiger, David, Buerger, Corinna, Caudle, Susan E., Nguyen-Driver, Mina, Kerr, Elizabeth, Mamak, Eva, Sanz, Jacqueline H., Tangen, Rachel, Wilkening, Greta, Cederbaum, Stephen, Feigenbaum, Annette, Kerr, Douglas S., Lichter-Konecki, Uta, Seashore, Margretta R., Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Merritt, J. Lawrence, II, Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld-Adams, James, Wong, Derek, Yudkoff, Marc, Arnoux, Jean-Baptiste, Baric, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, Cortes-Saladefont, Elisenda, Couce, Maria L., Eyskens, François, de Laet, Corine, de Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grunewald, Stephanie, Haberle, Johannes, Hwu, Wuh-Liang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Muehlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, Sykut-Cegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri

Publikováno v: Journal of inherited metabolic disease, vol 42, iss 1
Journal of Inherited Metabolic Disease, 42(1), 93-106. Springer Netherlands
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, ' 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, vol. 42, no. 1, pp. 93-106 . https://doi.org/10.1002/jimd.12031
Journal of inherited metabolic disease, 42(1), 93-106. Springer Netherlands
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of inherited metabolic disease

ollaborators: Bloxam S, Brody L, Caspi L, Elsbecker S, Fierro L, Lynn A, Mullins M, Mütze U, Papaleo C, Payan I, Seminara J, Simpson K, Singer R, Wallis K, Alber FD, Babikian T, Bender H, Boys C, Breiger D, Buerger C, Caudle SE, NguyenDriver M, Kerr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93d4609396aef463719272a84cbaf6b
https://escholarship.org/uc/item/5h73x4jb

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Autor: Ah Mew N; Research Center for Genetic Medicine, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA. nahmew@cnmc.org, Payan I, Daikhin Y, Nissim I, Nissim I, Tuchman M, Yudkoff M

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2009 Dec; Vol. 98 (4), pp. 325-30. Date of Electronic Publication: 2009 Jul 14.