TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disea...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Autores principales: Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O’Callaghan, Finbar, Zonnenberg, Bernard, Crippa, Stefania, Comis, Silvia, d’Augères, Guillaume Beaure, Belousova, Elena, Carter, Tom, Cottin, Vincent, Dahlin, Maria, Ferreira, José Carlos, Macaya, Alfons, Benedik, Mirjana Perkovic, Sander, Valentin, Youroukos, Sotirios, Castellana, Ramon, Ulker, Bulent, Feucht, Martha
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4256743/
https://ncbi.nlm.nih.gov/pubmed/25424195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0182-9
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