Associated Papers
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto M et al.
Molecular Neurobiology, 2019
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.
Ribas GS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
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