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
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.
Hoogeveen IJ et al.
Jimd Reports, 2016
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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