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Navegación por Autor Häberle, Johannes
Mostrando resultados 1 a 5 de 5
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 8-abr-2015 | Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man | Rivera-Barahona, Ana CSIC; Sánchez-Alcudia, Rocío CSIC; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén CSIC ORCID; Ugarte, Magdalena CSIC ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. CSIC ORCID | 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 |
| openAccess |  | 20-may-2015 | The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle | Díez-Fernández, Carmen CSIC; Gallego, José; Häberle, Johannes; Cervera, Javier; Rubio, Vicente CSIC ORCID | artículo |
| openAccess |  | 18-abr-2014 | Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function | Díez-Fernández, Carmen CSIC; Hu, Liyan; Cervera, Javier; Häberle, Johannes; Rubio, Vicente CSIC ORCID | artículo |
| openAccess |  | jul-2016 | Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations | Sancho-Vaello, Enea CSIC ORCID; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC ORCID; Fernández-Murga, María Leonor CSIC; Rufenacht, Veronique; Mustedanagic, Merima; Rubio, Vicente CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Häberle, Johannes | artículo |
