Associated Papers
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
The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
Grünert SC et al.
Genes, 2021
34440378 (PubMed )
Supplement: genes-12-01205-s001.zip › Supplementary-latest_version.pdf
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 can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Lu SQ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
Luo X et al.
Bmc Medical Genetics, 2020
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ et al.
Journal of Inherited Metabolic Disease, 2007
A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.
Tang NL et al.
Molecular Genetics and Metabolism, 2003
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