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PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry
OBJECTIVE: To elaborate the diagnostic methods used as “gold standard” in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). METHODS: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, l...
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| Izdano u: | Neurol Genet |
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| Glavni autori: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4821086/ https://ncbi.nlm.nih.gov/pubmed/27066546 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000007 |
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