Galactosemia (G) is due to either partial or complete deficiency of the enzyme galactose-1-phosphate uridyl transferase (Ts). In females with G, there is a high incidence of premature ovarian ...

For example, one of the screening tests used to detect galactosemia ... [5] Timing is critical for follow-up of abnormal newborn screening results. It is the clinician's responsibility to ...

The NDA for govorestat for the galactosemia indication was accepted by the FDA in late February under its Priority Review pathway. Year to date, shares of Applied Therapeutics have skyrocketed 155 ...

Several disorders diagnosed through newborn screenings can be treated ... including a baby who died at eight days of age from galactosemia, the inability to process the sugar galactose present ...