Evaluating Patients With Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow-Up Approaches.

Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III.

Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022.

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.