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mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Franz, David N., Capal, Jamie K.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5348752/
https://ncbi.nlm.nih.gov/pubmed/28288694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0596-2
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