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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2014
Pynciau:
Research
Mynediad Ar-lein: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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