New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

por Wraith, James E, Imrie, Jackie
Publicado em 2009

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

por Arn, Pamela, Bruce, Iain A., Wraith, James E., Travers, Helen, Fallet, Shari
Publicado no Ann Otol Rhinol Laryngol (2015)

Natural history of alpha mannosidosis a longitudinal study

por Beck, Michael, Olsen, Klaus J, Wraith, James E, Zeman, Jiri, Michalski, Jean-Claude, Saftig, Paul, Fogh, Jens, Malm, Dag
Publicado em 2013

An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III

por Cross, Elaine M, Grant, Sheena, Jones, Simon, Bigger, Brian W, Wraith, James E, Mahon, Louise V, Lomax, Michelle, Hare, Dougal J
Publicado no J Neurodev Disord (2014)

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

por Wraith, James E., Sedel, Frédéric, Pineda, Mercèdes, Wijburg, Frits A., Hendriksz, Christian J., Fahey, Michael, Walterfang, Mark, Patterson, Marc C., Chadha-Boreham, Harbajan, Kolb, Stefan A.
Publicado em 2013

Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) — 10 Year Follow-up of Patients Who Previously Participated in an MPS VI Surv...

por Giugliani, Roberto, Lampe, Christina, Guffon, Nathalie, Ketteridge, David, Teles, Elisa Leão, Wraith, James E., Jones, Simon A, Piscia-Nichols, Cheri, Lin, Ping, Quartel, Adrian, Harmatz, Paul
Publicado em 2014

Mucopolysaccharidosis IVA: Identification of a Common Missense Mutation I113F in the N-Acetylgalactosamine-6-Sulfate Sulfatase Gene

por Tomatsu, Shunji, Fukuda, Seiji, Cooper, Alan, Wraith, James E., Rezvi, Golam Md. Maruf, Yamagishi, Atsushi, Yamada, Naoto, Kato, Zenichiro, Isogai, Kouji, Sukegawa, Kazuko, Kondo, Naomi, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Orii, Tadao
Publicado em 1995

Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

por Speak, Anneliese O, Platt, Nicholas, Salio, Mariolina, te Vruchte, Danielle Taylor, Smith, David A, Shepherd, Dawn, Veerapen, Natacha, Besra, Gurdyal, Yanjanin, Nicole M., Simmons, Louise, Imrie, Jackie, Wraith, James E., Lachmann, Robin, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Hendriksz, Christian J, Porter, Forbes D, Cerundolo, Vincenzo, Platt, Frances M
Publicado em 2012

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

por Speak, Anneliese O., te Vruchte, Danielle, Davis, Lianne C., Morgan, Anthony J., Smith, David A., Yanjanin, Nicole M., Simmons, Louise, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Imrie, Jackie, Jacklin, Elizabeth, Wraith, James E., Hendriksz, Christian, Lachmann, Robin, Cognet, Celine, Sidhu, Rohini, Fujiwara, Hideji, Ory, Daniel S., Galione, Antony, Porter, Forbes D., Vivier, Eric, Platt, Frances M.
Publicado em 2014

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

por Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Publicado em 2011

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

por Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H
Publicado no Gut (2017)

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

por te Vruchte, Danielle, Speak, Anneliese O., Wallom, Kerri L., Al Eisa, Nada, Smith, David A., Hendriksz, Christian J., Simmons, Louise, Lachmann, Robin H., Cousins, Alison, Hartung, Ralf, Mengel, Eugen, Runz, Heiko, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M., Wassif, Christopher A., Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M., Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S., Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J., Wraith, James E., Porter, Forbes D., Cortina-Borja, Mario, Platt, Frances M.
Publicado em 2014