Development of Newborn Screening for Pompe Disease
Pompe disease is an inborn error of lysosomal degradation of glycogen. The responsible enzyme is acid alpha-glucosidase (GAA) [...]
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| Main Authors: | , |
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| Format: | Book |
| Published: |
MDPI AG,
2020-01-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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| Summary: | Pompe disease is an inborn error of lysosomal degradation of glycogen. The responsible enzyme is acid alpha-glucosidase (GAA) [...] |
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| Item Description: | 2409-515X 10.3390/ijns6010005 |