Predicting the phenotype of Pompe Disease from features of GAA variants.

Abstract excerpt

As the management of Pompe disease depends on whether an individual has infantile onset Pompe disease (IOPD) or late onset Pompe disease (LOPD), the question of whether the phenotype can be predicted from specific pathogenic variants is becoming increasingly important. We reviewed published cases of Pompe disease in which IOPD versus LOPD and pathogenic GAA variants were assigned for specific individuals. We then...

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• alpha-Glucosidases
• GAA gene
• Glycogen Storage Disease Type II
• Infant
• Infant, Newborn