A genetic disease under the multiform mask - infantile-onset of Pompe disease
Acid α-glucosidase deficiency - Pompe disease (PD) is a genetic, autosomal recessively inherited disorder leading to impaired glycogen degradation and storage in cells, especially muscles. It occurs with a frequency of 1 : 10,000 - 1 : 40,000 live births. This article presents a currently 14-year-ol...
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| Main Authors: | , , , |
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| Format: | Book |
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Termedia Publishing House,
2024-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |