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Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment
The goal of screening programs for inborn errors of metabolism (IEM) is early detection and timely intervention to significantly reduce morbidity, mortality and associated disabilities. Phenylketonuria exemplifies their success as neonates are identified at birth and then promptly treated allowing n...
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| Publicado no: | Clin Biochem Rev |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Australian Association of Clinical Biochemists
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7255311/ https://ncbi.nlm.nih.gov/pubmed/32518427 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.33176/AACB-19-00037 |
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