Associated Papers
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D et al.
Orphanet Journal of Rare Diseases, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report.
Fu H et al.
Medicine, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.
Iijima H et al.
Molecular Genetics and Metabolism Reports, 2021
Novel variants in Turkish patients with glycogen storage disease.
Çakar NE et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Kirk EP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
Kasapkara ÇS et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
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
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.
Weinstein DA et al.
Molecular Genetics and Metabolism, 2006
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
Bachrach BE et al.
The Journal of Pediatrics, 2002
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