TY  - GEN
AU  - Grama,Alina
AU  - Blaga,Ligia
AU  - Nicolescu,Alina
AU  - Deleanu,Călin
AU  - Militaru,Mariela
AU  - Căinap,Simona Sorana
AU  - Pop,Irina
AU  - Tita,Georgia
AU  - Sîrbe,Claudia
AU  - Fufezan,Otilia
AU  - Vințan,Mihaela Adela
AU  - Vulturar,Romana
AU  - Pop,Tudor Lucian
TI  - Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure
SN  - 1648-9144
PY  - 2019///1002
KW  - Child, Preschool
KW  - Developed Countries
KW  - Female
KW  - Follow-Up Studies
KW  - Galactitol
KW  - urine
KW  - Galactose
KW  - Galactosemias
KW  - complications
KW  - Humans
KW  - Infant, Newborn
KW  - Lactose Tolerance Test
KW  - Liver Failure, Acute
KW  - Magnetic Resonance Spectroscopy
KW  - Meningitis, Bacterial
KW  - Mutation
KW  - Neonatal Screening
KW  - Romania
KW  - Streptococcal Infections
KW  - Streptococcus
KW  - UTP-Hexose-1-Phosphate Uridylyltransferase
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.3390/medicina55040091
ER  -