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...
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| Formaat: | Boek |
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MDPI AG,
2020-04-01T00:00:00Z.
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Internet
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A1234.567 |
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| Kopie 1 | Beschikbaar |