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Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing
The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The traditional diagnostic approach is based on the invasive hepatic or muscle biopsies, which are...
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| Udgivet i: | Pak J Med Sci |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Professional Medical Publications
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6994867/ https://ncbi.nlm.nih.gov/pubmed/32063977 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12669/pjms.36.2.1310 |
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