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Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, whi...
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| Pubblicato in: | Genet Mol Biol |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Sociedade Brasileira de Genética
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5409780/ https://ncbi.nlm.nih.gov/pubmed/28304074 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2016-0268 |
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