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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318163/
https://www.ncbi.nlm.nih.gov/pubmed/27238910
http://dx.doi.org/10.1016/j.ymgme.2016.05.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318163/
https://www.ncbi.nlm.nih.gov/pubmed/27238910
http://dx.doi.org/10.1016/j.ymgme.2016.05.015

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