Children and adolescents (n = 25) with galactosemia homozygous for the common Q188R mutation (substitution of glutamine codon 188 with arginine) were group matched for sex and age with healthy ...

In the phase III ACTION-Galactosemia Kids study in children with galactosemia aged 2-17 years, govorestat improved daily activities, behavior, cognition, fine motor skills and tremor. It also ...