Associated Papers
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K et al.
Scientific Reports, 2024
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Luo X et al.
Human Mutation, 2022
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
Kumar TV et al.
Plos One, 2022
35834487 (PubMed )
Supplement: pone.0270373.s001.docx
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
Liu B et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Glycogen storage disease type VI: clinical course and molecular background.
Aeppli TR et al.
European Journal of Pediatrics, 2020
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ et al.
Journal of Inherited Metabolic Disease, 2007
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