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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replace...
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| 發表在: | Mol Genet Metab |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5907499/ https://ncbi.nlm.nih.gov/pubmed/29122469 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.10.008 |
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