Grama, Alina

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. [electronic resource] - Medicina (Kaunas, Lithuania) Apr 2019

Publication Type: Case Reports; Journal Article

1648-9144

10.3390/medicina55040091 doi


Child, Preschool
Developed Countries
Female
Follow-Up Studies
Galactitol--urine
Galactose--urine
Galactosemias--complications
Humans
Infant, Newborn
Lactose Tolerance Test
Liver Failure, Acute--complications
Magnetic Resonance Spectroscopy
Meningitis, Bacterial--complications
Mutation
Neonatal Screening
Romania
Streptococcal Infections--complications
Streptococcus
UTP-Hexose-1-Phosphate Uridylyltransferase--genetics