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206 results

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Page 1
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM. Speak AO, et al. Among authors: wraith je. Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14. Eur J Immunol. 2012. PMID: 22585405 Free PMC article.
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM. Speak AO, et al. Among authors: wraith je. Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14. Blood. 2014. PMID: 24235134 Free PMC article.
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Schwerd T, Pandey S, Yang HT, Bagola K, Jameson E, Jung J, Lachmann RH, Shah N, Patel SY, Booth C, Runz H, Düker G, Bettels R, Rohrbach M, Kugathasan S, Chapel H, Keshav S, Elkadri A, Platt N, Muise AM, Koletzko S, Xavier RJ, Marquardt T, Powrie F, Wraith JE, Gyrd-Hansen M, Platt FM, Uhlig HH. Schwerd T, et al. Among authors: wraith je. Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7. Gut. 2017. PMID: 26953272 Free PMC article.
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM. te Vruchte D, et al. Among authors: wraith je. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835. J Clin Invest. 2014. PMID: 24487591 Free PMC article.
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
NP-C Guidelines Working Group; Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. NP-C Guidelines Working Group, et al. Among authors: wraith je. Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14. Mol Genet Metab. 2009. PMID: 19647672
Natural history of alpha mannosidosis a longitudinal study.
Beck M, Olsen KJ, Wraith JE, Zeman J, Michalski JC, Saftig P, Fogh J, Malm D. Beck M, et al. Among authors: wraith je. Orphanet J Rare Dis. 2013 Jun 20;8:88. doi: 10.1186/1750-1172-8-88. Orphanet J Rare Dis. 2013. PMID: 23786919 Free PMC article. Clinical Trial.
206 results