Newborn Screening for Pompe Disease
Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzy...
Main Authors: | Takaaki Sawada, Jun Kido, Kimitoshi Nakamura |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-04-01
|
Series: | International Journal of Neonatal Screening |
Subjects: | |
Online Access: | https://www.mdpi.com/2409-515X/6/2/31 |
Similar Items
-
Lessons Learned from Pompe Disease Newborn Screening and Follow-up
by: Tracy L. Klug, et al.
Published: (2020-02-01) -
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
by: Patricia L. Hall, et al.
Published: (2020-01-01) -
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
by: Barbara K. Burton, et al.
Published: (2020-01-01) -
Newborn Screening for Pompe Disease: Pennsylvania Experience
by: Can Ficicioglu, et al.
Published: (2020-11-01) -
The First Year Experience of Newborn Screening for Pompe Disease in California
by: Hao Tang, et al.
Published: (2020-02-01)