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Systemic Disease Progression and Neurodegeneration in the Gbe1(ys/ys) Mouse Model of Glycogen Storage Disease Type IV.
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.
Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.