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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Detalhes bibliográficos
Publicado no:Medicina (Kaunas)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6524007/
https://ncbi.nlm.nih.gov/pubmed/30987402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina55040091
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