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

G S Ribas H M Souza J de Mari M Deon C Mescka M L Saraiva-Pereira R Kessler F Trapp K Michelin M Burin C R Vargas R Giugliani

Clin Chim Acta

Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Departamento de Genética, IB, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address:

Published: August 2016

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http://dx.doi.org/10.1016/j.cca.2016.05.015	DOI Listing

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