title: [Galactosemia; variability in clinical aspects and problems in the diagnosis].
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005693:Galactosemias / Q000097:blood* / Q000178:diet therapy / Q000235:genetics; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009713:Nucleotidyltransferases / Q000097:blood*; D010375:Pedigree; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
chemical_list: D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
vernacular_title: Galactosemie; variabiliteit in klinisch beeld en problemen bij de diagnostiek.