Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure (†)

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most comm...

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Detalles Bibliográficos
Autores principales: Grama, Alina, Blaga, Ligia, Nicolescu, Alina, Deleanu, Călin, Militaru, Mariela, Căinap, Simona Sorana, Pop, Irina, Tita, Georgia, Sîrbe, Claudia, Fufezan, Otilia, Vințan, Mihaela Adela, Vulturar, Romana, Pop, Tudor Lucian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524007/
https://www.ncbi.nlm.nih.gov/pubmed/30987402
http://dx.doi.org/10.3390/medicina55040091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524007/
https://www.ncbi.nlm.nih.gov/pubmed/30987402
http://dx.doi.org/10.3390/medicina55040091

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