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Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects
Lysosomal storage disorders (LSDs) are a very heterogeneous group of hereditary disorders. The diagnostic process usually involves complex sampling, processing, testing, and validation procedures, performed by specialized laboratories only, which causes great limitations in reaching a diagnosis for...
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Hoofdauteurs: | , |
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Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
Springer Berlin Heidelberg
2013
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Onderwerpen: | |
Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755556/ https://ncbi.nlm.nih.gov/pubmed/23609959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_229 |
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