Inibitori di mTOR

Malformazioni linfovascolari? Sì-rolimus!

Catelli A, Cantarini M, Grasso AG

2023/9 — pag. 199-199 — DOI

The case of a newborn with a complex lymphovascular malformation is presented. A somatic mutation of the PIK3CA gene was documented and the treatment with sirolimus was successfully administered....

Sclerosi tuberosa ed everolimus: una nuova storia

Cervesi C, Di Marzio GM, Kiren V, Cattaruzzi E, Costa P, Carrozzi M

2021/7 — pag. 443-449 — DOI

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, due to inactivating muta-tions of TSC1 or TSC2 mTOR pathway genes and is characterized by variable multisystem manifestations ranging from hamartomas to malignant neoplasms. It f...

Malformazione angiodisplastica e uso del sirolimus

A.M.C. Galimberti, S. Pastore, G. Ventura, E. Cattaruzzi

2020/7 — pag. 190-190 — DOI

L’everolimus nel trattamento dell’epilessia in un bambino con sclerosi tuberosa

P. Ricciardelli, S. Pusceddu, C. Romeo, A. Zucchini, F. Marchetti

2016/9 — pag. 579-584

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder affecting cellular differentia- tion and proliferation, resulting in a variety of hamartomatous lesions that may affect virtually every organ system of the body. TSC is caused by in...