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...

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Publicat a:JIMD Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Research Reports
Accés en línia: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
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