Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population

BACKGROUND: We evaluated the performance of multiplex tandem mass spectrometry (MS/MS) in newborn screening for detection of 6 lysosomal storage disorders (LSDs), namely, Niemann-Pick A/B, Krabbe, Gaucher, Fabry, and Pompe diseases and Hurler syndrome. METHODS: We revised the conditions and procedur...

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Detalles Bibliográficos
Autores principales: Han, Minje, Jun, Sun-Hee, Song, Sang Hoon, Park, Kyoung Un, Kim, Jin Q, Song, Junghan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190003/
https://www.ncbi.nlm.nih.gov/pubmed/22016678
http://dx.doi.org/10.3343/kjlm.2011.31.4.250

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