Vanier, MT; Gissen, P; Bauer, P; Coll, MJ; Burlina, A; Hendriksz, CJ; Latour, P; ... Kolb, SA; + view all (2016) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Molecular Genetics and Metabolism , 118 (4) pp. 244-254. 10.1016/j.ymgme.2016.06.004. Green open access