Case Report: Everolimus reduced bone turnover markers but showed no clinical benefit in a patient with severe progressive osseous heteroplasia

BACKGROUND: Progressive osseous heteroplasia (POH) is an ultrarare genetic disorder characterized by an inactivating mutation in the GNAS gene that causes heterotopic ossification. Inhibition of the mammalian target of the rapamycin (mTOR) signalling pathway has been proposed as a therapy for progre...

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Detalles Bibliográficos
Autores principales: Cebey-López, M., Currás-Tuala, M. J., Gómez-Rial, J., Rivero-Calle, I., Pardo-Seco, J., Mendez-Gallart, R., Pischedda, S., Gómez-Carballa, A., Barral-Arca, R., Justicia-Grande, A., Viz-Lasheras, S., Rodríguez-Tenreiro, C., Gómez, R., Salas, A., Martinón-Torres, F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723155/
https://www.ncbi.nlm.nih.gov/pubmed/36483469
http://dx.doi.org/10.3389/fped.2022.936780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723155/
https://www.ncbi.nlm.nih.gov/pubmed/36483469
http://dx.doi.org/10.3389/fped.2022.936780

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