Article

From Past to Present: Pompe Disease, Pseudodeficiency Alleles, and Diagnostic Challenges

2024-10-04

Abstract excerpt

Pompe disease is an autosomal recessive disorder caused by GAA variants leading to acid alpha-glucosidase deficiency. Diagnosis is challenging due to the variable phenotypic presentation and overlap with other conditions. Traditionally, diagnosis relies on measuring enzyme activity, but next-generation sequencing (NGS) advancements have improved accuracy. However, interpreting variants is complex, especially becau...

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Literature Corpus work: 58d91551-e908-5389-8665-857fe765eeb5
DOI: 10.1101/2024.10.03.24314698

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