Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.

Abstract excerpt

INTRODUCTION: Pompe disease, a rare autosomal recessive lysosomal storage disorder, results from mutations in the GAA gene that lead to deficient acid alpha-glucosidase activity and glycogen accumulation in various tissues. METHODS: This review employs the diagnostic approach to the disease, encompassing enzymatic assays and molecular genetics, with a focus on genotype-phenotype correlations and regionspecific...

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