Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants

Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactatemia. GSD...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Kamenets, Elena A., Gusarova, Elena A., Milovanova, Natalia V., Itkis, Yulia S., Strokova, Tatiana V., Melikyan, Maria A., Garyaeva, Irina V., Rybkina, Irina G., Nikitina, Natalia V., Zakharova, Ekaterina Y.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7203652/
https://ncbi.nlm.nih.gov/pubmed/32395408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12082
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados