Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Importance: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may...

Full description

Bibliographic Details
Main Authors: David G. Jackson, Laura E. Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S. Kishnani
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Pompe disease
Ultrasound
Newborn screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000356

Internet

http://www.sciencedirect.com/science/article/pii/S2214426923000356

Similar Items