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...

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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

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