title: [A case of neonatal galactosemia].
abstract: The paper describes a rare case of hereditary thesaurismosis, galactosemia, in a full-term neonate girl aged 12 days with morphologically verified fetal giant-cell cholestatic hepatitis with the development of ascitis and jaundice.
authors.forename: N V
authors.initials: NV
authors.lastname: Savasteeva
authors.forename: N F
authors.initials: NF
authors.lastname: Dobroskokova
authors.forename: V A
authors.initials: VA
authors.lastname: Zhukova
authors.forename: A P
authors.initials: AP
authors.lastname: Nadeev
authors.forename: V P
authors.initials: VP
authors.lastname: Aksenova
authors.forename: M A
authors.initials: MA
authors.lastname: Travin
mesh_terms: D002779:Cholestasis / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D005693:Galactosemias / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D006505:Hepatitis / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D041781:Jaundice, Obstructive / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D008103:Liver Cirrhosis / Q000378:metabolism / Q000473:pathology* / Q000628:therapy