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Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100000 Dried Blood Spots
OBJECTIVE: To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to assay 5 enzymatic activities in dried blood spots (DBS) for NBS of 5 lysosomal storage diseases (mucopolysaccharidosis [MPS]-II, MPS-IIIB, MPS-IVA, MPS-VI, and...
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| Yayımlandı: | J Pediatr |
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| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7159818/ https://ncbi.nlm.nih.gov/pubmed/31732130 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2019.09.036 |
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