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...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	David G. Jackson, Laura E. Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S. Kishnani
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2023-09-01
סדרה:	Molecular Genetics and Metabolism Reports
נושאים:	Pompe disease Ultrasound Newborn screening
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S2214426923000356
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!