Author/Editor     Arko, Janez Jan; Debeljak, Maruša; Žerjav-Tanšek, Mojca; Battelino, Tadej; Grošelj, Urh
Title     A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2
Type     članek
Vol. and No.     Letnik 48, št. 8
Publication year     2020
Volume     str. 1-8
ISSN     0300-0605 - Journal of international medical research
Language     eng
Keywords     glycogen storage disease type 0
GYS2
GSD
hyperketotic hypoglycemia
hepatic glycogen synthase
gene sequence variant