The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

• 期刊名称Journal of Inherited Metabolic Disease
• 作者Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides-Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco-Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; i Saladelafont, Elisenda Cortès; Couce, Maria L.; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; de Baulny, Hélène Ogier; Ortez, Carlos; Peña-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; Summar, Marshall L.; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H.; Williams, Monique; Burgard, Peter
• 卷第38卷
• 期第6期
• 印刷ISSN0141-8955
• 电子ISSN1573-2665
• 文件大小479.65KB
• 发表时间2015-11-15
• DOI10.1007/s10545-015-9839-3
• 页码1041-1057