693 Increased aortic stiffness in glycogenosis type 2 (Pompe's disease)
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II
Liver Glycogenosis Due to Phosphorylase Kinase Deficiency: PHKG2 Gene Structure and Mutations Associated with Cirrhosis
A Model of mRNA Splicing in Adult Lysosomal Storage Disease (Glycogenosis Type II)
Muscle as a putative producer of acid α-glucosidase for glycogenosis type II gene therapy
Autosomal Glycogenosis of Liver and Muscle Due to Phosphorylase Kinase Deficiency is Caused by Mutations in the Phosphorylase Kinase β Subunit (PHKB)
X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2, the Gene Encoding the Liver α Subunit of Phosphorylase Kinase
Mutation Hotspots in the PHKA2 G Gene in X-Linked Liver Glycogenosis Due to Phosphorylase Kinase Deficienc with Atypical Activity in Blood Cells (XLG2)
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Glycogen storage disease (q.v.).
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