Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Abstract Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in...
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Main Authors: | , , , , , , , , , , , , |
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Format: | Book |
Published: |
BMC,
2019-09-01T00:00:00Z.
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Internet
Connect to this object online.3rd Floor Main Library
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A1234.567 |
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Copy 1 | Available |