The Clinical Management of Pompe Disease: A Pediatric Perspective

Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. PD can be cl...

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Bibliographic Details
Main Author: Jorge Sales Marques (Author)
Format: Book
Published: MDPI AG, 2022-09-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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