Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
D006004:Glycogen Debranching Enzyme System; C030563:amylo-1,6-glucosidase