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    Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.

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    Authors
    Schielen, Peter C J I
    Kemper, Evelien A
    Gelb, Michael H
    Type
    Article
    Language
    en
    
    Metadata
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    Title
    Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.
    Published in
    Int J Neonatal Screen 2017, 3(2): pii:6
    Publiekssamenvatting
    Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide.
    DOI
    10.3390/ijns3020006
    PMID
    28730181
    URI
    http://hdl.handle.net/10029/621029
    ae974a485f413a2113503eed53cd6c53
    10.3390/ijns3020006
    Scopus Count
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