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Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3ß,5a,6ß-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.

Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R. Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3ß,5a,6ß-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis. Clin Chim Acta. 2016 Aug 01; 459:57-62.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.