Associated Papers
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
Kumar TV et al.
Plos One, 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
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
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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