Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. [electronic resource]
Producer: 20191002ISSN:- 1648-9144
- 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
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Publication Type: Case Reports; Journal Article
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