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Clinical implementation of gene panel testing for lysosomal storage diseases
BACKGROUND: The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing. However, due to the sequential nature of this method...
में बचाया:
| में प्रकाशित: | Mol Genet Genomic Med |
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| मुख्य लेखकों: | , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
John Wiley and Sons Inc.
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6393649/ https://ncbi.nlm.nih.gov/pubmed/30548430 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.527 |
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