ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Assist Reprod Genet. 2018 Jul; 35(7):1209.Galactosemia is an autosomal recessive genetic disorder of the galactose metabolism, caused by impaired activity of galactose-1-phosphate uridyltransferase (GALT). Complete deficiency or severely reduced activity of GALT affects approximately 1:30,000 to 1:50,000 persons. Girls and women with classic galactosemia have...