A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0

BACKGROUND: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in the...

Descripción completa

Detalles Bibliográficos
Autores principales: Soggia, Ana Priscila, Correa-Giannella, Maria Lúcia, Fortes, Maria Angela Henriques, Luna, Ana Mercedes Cavaleiro, Pereira, Maria Adelaide Albergaria
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837020/
https://www.ncbi.nlm.nih.gov/pubmed/20051115
http://dx.doi.org/10.1186/1471-2350-11-3

Ejemplares similares

Ejemplares similares