The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo, M E

The natural history of classic galactosemia: lessons from the GalNet registry. [electronic resource] - Orphanet journal of rare diseases 04 2019 - 86 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1750-1172

10.1186/s13023-019-1047-z doi


Adolescent
Adult
Cohort Studies
Female
Galactosemias--genetics
Homozygote
Humans
Infant, Newborn
Male
Mutation--genetics
Neonatal Screening
Registries
Retrospective Studies
UTP-Hexose-1-Phosphate Uridylyltransferase--genetics
Young Adult