GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
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DOI: 10.1002/jimd.12325
Abstract: Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen‐branching enzyme and secondary storage of glycogen… read more here.
Keywords: adult polyglucosan; polyglucosan body; disease; body disease ... See more keywords