[A case of neonatal galactosemia].
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.
Savasteeva
N V
NV
Dobroskokova
N F
NF
Zhukova
V A
VA
Nadeev
A P
AP
Aksenova
V P
VP
Travin
M A
MA
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