ba0003cc1 | (1) | ECTS2014
Palagano Eleonora
, Pangrazio Alessandra
, Strina Dario
, Puddu Alessandro
, Oppo Manuela
, Valentini Maria
, Vezzoni Paolo
, Villa Anna
, Sobacchi Cristina
Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...