Browsing by Subject Mucopolisacàrids
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 14-Oct-2015 | Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks | Canals Montferrer, Isaac; Soriano i Fradera, Jordi; Orlandi, Javier G.; Torrent Juan, Roger; Richaud-Patin, Yvonne; Jiménez-Delgado, Senda; Merlin, Simone; Follenzi, Antonia; Consiglio, Antonella; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Raya Chamorro, Ángel |
| 24-Mar-2000 | Anàlisi molecular de la mucopolisacaridosi I, la mucopolisacaridosi II i la leucodistròfia metacromàtica en els pacients espanyols | Gort i Mas, Laura |
| 2022 | Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report | Andrade, Isadora; Ribeiro, River; Carneiro, Zumira A.; Giugliani, Roberto; Pereira, Catarina; Cozma, Claudia; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Lourenco, Charles M. |
| Jan-2020 | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome | Benetó, Noelia; Cozar, Mónica; Gort i Mas, Laura; Pacheco, Laura; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| 9-Nov-2018 | Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neural cells | Bayó Puxan, Neus; Terrasso, Ana Paula; Creyssels, Sophie; Simão, Daniel; Begon Pescia, Christina; Lavigne, Marina; Salinas, Sara; Bernex, Florence; Bosch, Assumpció; Kalatzis, Vasiliki; Levade, Thierry; Cuervo, Ana Maria; Lory, Philippe; Consiglio, Antonella; Brito, Catarina |
| Sep-1992 | Manifestaciones orales en el Síndrome de Hunter (MPSII) | Otal Mateo, Valentina; Cahuana Cárdenas, Abel B. (Abel Belizario) |
| 22-Jun-2021 | The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis” | Sampayo Cordero, Miguel; Miguel Huguet, Bernat; Malfettone, Andrea; Pérez García, José Manuel; Llombart Cussac, Antonio; Cortés, Javier; Pardo, Almudena; Pérez López, Jordi |