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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...
Enregistré dans:
| Publié dans: | Orphanet J Rare Dis |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2017
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| Sujets: | |
| Accès en ligne: | 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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