Galactosemia (GAL) (McKusick 230400) caused by deficiency of galactose-1-phosphate uridyltransferase (GALT: EC 2.7.712) is associated with an impaired ability to metabolize galactose, derived from ...

In this study, we developed a new GalT gene-trapped mouse model to test the in vivo efficacy of a novel therapy aimed to reduce the accumulation of toxic level of gal-1P in Classic Galactosemia.

Gene replacement therapy with JAG101 reduces pathogenic biomarkers in a mouse model of Type 1 galactosemia (abstract #1006) In a mouse model of Type 1 galactosemia, a one-time low or high ...

Galactosemia is a rare genetic disorder that affects how your body metabolizes galactose. Galactose is a simple sugar found in milk, cheese, yogurt, and other dairy products. When it’s combined ...

In an animal model of Galactosemia, AT-007 reduced toxic galactitol levels and prevented disease complications. In clinical trials, AT-007 significantly reduced plasma galactitol levels vs.

Galactosemia Foundation Urges FDA to Reconsider on Behalf of Rare Disease Community Facing Devastating Disease ALBANY, N.Y., Nov. 27, 2024 /PRNewswire/ -- The Galactosemia Foundation, a non-profit ...