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Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Professional Medical Publications
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994867/ https://www.ncbi.nlm.nih.gov/pubmed/32063977 http://dx.doi.org/10.12669/pjms.36.2.1310 |