At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase (GAA, EC 3.2.1.20), leading to generalized accumulation of lysosomal glycogen especially in the heart, skeletal, and smooth muscle, and the nervous system. It is generally classi...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
MDPI AG,
2020-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |