Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry()

BACKGROUND: There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE: To evaluate the performance of a multiplex-tandem mass spectrome...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Elliott, Susan, Buroker, Norman, Cournoyer, Jason J., Potier, Anna M., Trometer, Joseph D., Elbin, Carole, Schermer, Mack J., Kantola, Jaana, Boyce, Aaron, Turecek, Frantisek, Gelb, Michael H., Scott, C. Ronald
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5318163/
https://ncbi.nlm.nih.gov/pubmed/27238910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.05.015
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