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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Sarrera elektronikoa: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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