Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
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
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
Brown LM et al.
Journal of Inherited Metabolic Disease, 2015
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.
Soggia AP et al.
Bmc Medical Genetics, 2010
The variable clinical phenotype of liver glycogen synthase deficiency.
Spiegel R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007
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