Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

The interest in screening lysosomal storage disorders (LSDs) in newborns and high-risk population has increased in the last years due to the availability of novel treatment strategies coupled with the development of diagnostic techniques. We report the development of a short-incubation mass spectrom...

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Detalhes bibliográficos
Publicado no:J Chromatogr B Analyt Technol Biomed Life Sci
Main Authors: Mechtler, Thomas P., Metz, Thomas F., Müller, Hannes, Ostermann, Katharina, Ratschmann, Rene, De Jesus, Victor R., Shushan, Bori, Di Bussolo, Joseph M., Herman, Joseph L., Herkner, Kurt R., Kasper, David C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539023/
https://ncbi.nlm.nih.gov/pubmed/23122395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jchromb.2012.09.012
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