A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. by Jiang, X, Sidhu, R, Porter, F, Yanjanin, N, Speak, A, te Vruchte, D, Platt, F, Fujiwara, H, Scherrer, D, Zhang, J, Dietzen, D, Schaffer, J, Ory, D

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. by Speak, A, Platt, N, Salio, M, te Vruchte, D, Smith, D, Shepherd, D, Veerapen, N, Besra, G, Yanjanin, N, Simmons, L, Imrie, J, Wraith, J, Lachmann, R, Hartung, R, Runz, H, Mengel, E, Beck, M, Hendriksz, C, Porter, F, Cerundolo, V, Platt, F