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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...
Shranjeno v:
| izdano v: | Clin Biochem Rev |
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| Glavni avtor: | |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The Australian Association of Clinical Biochemists
2020
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| Teme: | |
| Online dostop: | 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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