Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | nov-2021 | Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry | Keller, Mareike; Brennenstuhl, Heiko; Hübschmann, Oya Kuseyri; Manti, Filippo; Palacios, Natalia Alexandra Julia; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I.; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesús; Garbade, Sven F.; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández-Ramos, Joaquín Alejandro; García-Cazorla, Ángeles; Hoffmann, Georg F.; Tay Kiat Hong, Stacey; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A.; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo CSIC ORCID; Oppebøen, Mari; Pearson, Toni S.; Sivri, H. Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing | artículo |
closedAccess | | 24-ago-2009 | Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations | Trevisson, Eva; Burlina, Alberto; Doimo, Mara; Pertegato, Vanessa; Casarin, Alberto; Cesaro, Luca; Navas, Plácido CSIC ORCID; Basso, Giuseppe; Sartori, Geppo; Salviati, Leonardo | artículo |
openAccess | | 20-sep-2021 | Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines | Hübschmann, Oya Kuseyri; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios I.; Kulhánek, Jan; Kurian, Manju A.; López-Laso, Eduardo; Oppebøen, Mari; Kılavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Bürgi, Sabine; Porta, Francesco; Honzík, Tomáš; Santer, René; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Hübschmann, Daniel; Garbade, Sven F.; iNTD Registry Study Group; García-Cazorla, Ángeles; Opladen, Thomas | artículo |
openAccess | | 29-may-2012 | Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders | Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo S.; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente CSIC ORCID ; Dionisi-Vici, Carlo | artículo |