The Clinical Management of Pompe Disease: A Pediatric Perspective
Abstract
:1. Introduction
2. IOPD and LOPD
3. Clinical Presentations of Pompe Disease
4. Examinations and Diagnosis of Pompe Disease
4.1. Muscular System
4.2. Respiratory System
4.3. Neurophysiological System
4.4. Cardiac System
4.5. Biochemical Tests
5. The Importance of Newborn Screening for PD
5.1. Global Practice on Pompe NBS
5.2. Next Generation Sequencing and Mutation Analysis
5.3. The Concern on NBS in Pompe Disease
5.4. Clinical Benefits of Pompe NBS-Guided Early Treatment
6. ERT for PD
Dose Optimization in ERT
7. Recommended Treatment Protocol for PD
7.1. The Importance of CRIM Status and Management of CRIM-Negative Patients
7.2. ERT in Practice
7.3. Monitoring of ERT and Follow-Up
7.4. Genetic Counselling
8. Case Sharing on ERT for PD
9. Perspectives in Pompe Disease Management
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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IOPD | LOPD |
---|---|
Musculoskeletal
| Musculoskeletal
|
Infantile Form | Late-Onset Form |
---|---|
Potential patient group(s)
| Potential patient group(s)
|
Outcomes | Assessments |
---|---|
Skeletal muscle strength |
|
Vital capacity |
|
Functional exercise capacity |
|
Quality of life |
|
Hearing |
|
Laboratory tests |
|
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Marques, J.S. The Clinical Management of Pompe Disease: A Pediatric Perspective. Children 2022, 9, 1404. https://doi.org/10.3390/children9091404
Marques JS. The Clinical Management of Pompe Disease: A Pediatric Perspective. Children. 2022; 9(9):1404. https://doi.org/10.3390/children9091404
Chicago/Turabian StyleMarques, Jorge Sales. 2022. "The Clinical Management of Pompe Disease: A Pediatric Perspective" Children 9, no. 9: 1404. https://doi.org/10.3390/children9091404