Associated Papers
Clinical and genetic spectrum of GSD type 6 in Korea.
Hahn JW et al.
Orphanet Journal of Rare Diseases, 2023
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
Grünert SC et al.
Diagnostics (basel, Switzerland), 2021
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ et al.
Journal of Inherited Metabolic Disease, 2007
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
Chang S et al.
Human Molecular Genetics, 1998
Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.
Korula S et al.
Journal of Clinical and Experimental Hepatology, 0
Select a paper to view details