Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.
Arko JJ et al.
The Journal of International Medical Research, 2020
Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
Kamenets EA et al.
Jimd Reports, 2020
A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.
Watanabe I et al.
Clinical Pharmacology and Therapeutics, 2003
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
Orho M et al.
The Journal of Clinical Investigation, 1998
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