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
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
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ et al.
Journal of Inherited Metabolic Disease, 2007
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 0
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