title: [Congenital galactosemia in newborn infant with vascular malformation of the internal organs].
abstract: The paper describes a case of hereditary thesaurismosis - galactosemia in neonate infant with mutation of GALT-gene (Q188R/N) and vascular malformation of the internal organs.
authors.forename: K V
authors.initials: KV
authors.lastname: Rastol'tsev
authors.forename: I A
authors.initials: IA
authors.lastname: Kuz'micheva
authors.forename: N I
authors.initials: NI
authors.lastname: Lazareva
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005690:Galactose / Q000097:blood; D005693:Galactosemias / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics; D054079:Vascular Malformations / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose