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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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Detaylı Bibliyografya
Yayımlandı:J Pediatr
Asıl Yazarlar: Scott, Charles Ronald, Elliott, Susan, Hong, Xinying, Huang, Jie-Yu, Kumar, Arun Babu, Yi, Fan, Pendem, Nagendar, Chennamaneni, Naveen Kumar, Gelb, Michael H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
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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