Associated Papers
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
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
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.
Szymańska E et al.
Molecular Genetics and Metabolism Reports, 2015
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