A new surrogate marker for CNS pathology in Niemann-Pick disease type C? by Platt, F, Lachmann, R

Substrate reduction therapy for glycosphingolipid storage disorders. by Lachmann, R, Platt, F

Treating lysosomal storage disorders: current practice and future prospects. by Platt, F, Lachmann, R

An analysis of herpes simplex virus gene expression during latency establishment and reactivation. by Lachmann, R, Sadarangani, M, Atkinson, H, Efstathiou, S

Glucosylated free oligosaccharides are biomarkers of endoplasmic- reticulum alpha-glucosidase inhibition. by Alonzi, D, Neville, D, Lachmann, R, Dwek, R, Butters, T

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. by Lachmann, R, te Vruchte, D, Lloyd-Evans, E, Reinkensmeier, G, Sillence, D, Fernandez-Guillen, L, Dwek, R, Butters, T, Cox, T, Platt, F

Substrate reduction therapy in Sandhoff disease: Evidence for improvement in nervous function in patients treated with miglustat by Lachmann, R, Wright, N, Parker, A, Ramaswarm, U, Coleman, M, Roos, J, Burnstein, R, Gillard, J, Harding, S, Platt, F, Wraith, J, Cox, T

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. by Elstein, D, Hollak, C, Aerts, J, van Weely, S, Maas, M, Cox, T, Lachmann, R, Hrebicek, M, Platt, F, Butters, T, Dwek, R, Zimran, A

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. by Cox, T, Lachmann, R, Hollak, C, Aerts, J, van Weely, S, Hrebícek, M, Platt, F, Butters, T, Dwek, R, Moyses, C, Gow, I, Elstein, D, Zimran, A

Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. by Sado, D, White, S, Piechnik, S, Banypersad, S, Treibel, T, Captur, G, Fontana, M, Maestrini, V, Flett, A, Robson, M, Lachmann, R, Murphy, E, Mehta, A, Hughes, D, Neubauer, S, Elliott, P, Moon, J

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. by Platt, F, Jeyakumar, M, Andersson, U, Priestman, D, Dwek, R, Butters, T, Cox, T, Lachmann, R, Hollak, C, Aerts, J, Van Weely, S, Hrebícek, M, Moyses, C, Gow, I, Elstein, D, Zimran, A

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease by Neumann, J, Bras, J, Deas, E, O'Sullivan, S, Parkkinen, L, Lachmann, R, Li, A, Holton, J, Guerreiro, R, Paudel, R, Segarane, B, Singleton, A, Lees, A, Hardy, J, Houlden, H, Revesz, T, Wood, N

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

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. by Schwerd, T, Pandey, S, Yang, H, Bagola, K, Jameson, E, Jung, J, Lachmann, R, Shah, N, Patel, S, Booth, C, Runz, H, Düker, G, Bettels, R, Rohrbach, M, Kugathasan, S, Chapel, H, Keshav, S, Elkadri, A, Platt, N, Muise, A, Koletzko, S, Xavier, R, Marquardt, T, Powrie, F, Wraith, J, Gyrd-Hansen, M, Platt, F, Uhlig, H

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Contro... by Portale, A, Carpenter, T, Brandi, M, Briot, K, Cheong, H, Cohen-Solal, M, Crowley, R, Jan De Beur, S, Eastell, R, Imanishi, Y, Imel, E, Ing, S, Ito, N, Javaid, M, Kamenicky, P, Keen, R, Kubota, T, Lachmann, R, Perwad, F, Pitukcheewanont, P, Ralston, S, Takeuchi, Y, Tanaka, H, Weber, T, Yoo, H, Zhang, L, Theodore-Oklota, C, Mealiffe, M, San Martin, J, Insogna, K