Associated Papers
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.
Soriano-Sexto A et al.
European Journal of Human Genetics : Ejhg, 2026
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
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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