Author(s): Sacher M; DeLoriea J; Mehranfar M; Casey C; Naaz A; Gamberi C;

TANGO2 deficiency disease (TDD) is a rare genetic disorder estimated to affect ~8000 individuals worldwide. It causes neurodegeneration often accompanied by potentially lethal metabolic crises that are triggered by diet or illness. Recent work has demonstra ...

Article GUID: 38836374

Author(s): Miyake CY; Lay EJ; Soler-Alfonso C; Glinton KE; Houck KM; Tosur M; Moran NE; Stephens SB; Scaglia F; Howard TS; Kim JJ; Pham TD; Valdes SO; ...

Purpose: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypot ...

Article GUID: 36473599

Author(s): Dokumaci A; Bessette-Viens R; Goberdhan N; Lucas S; Mazowita A; Stainton J;

In this article, we present six autoethnographies of lives marked by crisis that reflect on the issues of access, very broadly defined, that the COVID 19 pandemic has raised or redefined for each of us. As the time of crisis has made access concerns more an ...

Article GUID: 37461398