A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

por Striano, Pasquale, Auvin, Stéphane, Collins, Abigail, Horvath, Rita, Scheffer, Ingrid E., Tzadok, Michal, Miller, Ian, Kay Koenig, Mary, Lacy, Adrian, Davis, Ronald, Garcia‐Cazorla, Angela, Saneto, Russell P., Brandabur, Melanie, Blair, Susan, Koutsoukos, Tony, De Vivo, Darryl
Publicado 2022

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

por Neves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M., Caputi, Caterina, Cirillo, Emilia, Coman, David J., Dückers, Gregor, Gilbert, Donald L., Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L., Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler‐Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P., Dineen, Robert A.
Publicado 2023