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

Elena A KamenetsElena A GusarovaNatalia V MilovanovaYulia S ItkisTatiana V StrokovaMaria A MelikyanIrina V GaryaevaIrina G RybkinaNatalia V NikitinaEkaterina Y Zakharova

Published in: JIMD reports (2020)

Seven new patients with glycogen storage disease type 0 were found using next-generation sequencing and seven novel variants of GYS2 gene were annotated.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
dna methylation
patient reported outcomes
replacement therapy