Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present two clinical cases of classical galactosem...

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Detalles Bibliográficos
Autores principales: Rokaitė, Rūta, Traberg, Rasa, Dženkaitis, Mindaugas, Kučinskienė, Rūta, Labanauskas, Liutauras
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693318/
https://www.ncbi.nlm.nih.gov/pubmed/33113773
http://dx.doi.org/10.3390/medicina56110559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693318/
https://www.ncbi.nlm.nih.gov/pubmed/33113773
http://dx.doi.org/10.3390/medicina56110559

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