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Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial since an effective treatment is available. We previously described a liqui...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Bleyle, Lisa, Huidekoper, Hidde H., Vaz, Frederic M., Singh, Renu, Steiner, Robert D., DeBarber, Andrea E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908045/
https://ncbi.nlm.nih.gov/pubmed/27331003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.02.002
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