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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
Spiral analysis in Niemann-Pick disease type C.
Hsu AW, Piboolnurak PA, Floyd AG, Yu QP, Wraith JE, Patterson MC, Pullman SL. Hsu AW, et al. Among authors: wraith je. Mov Disord. 2009 Oct 15;24(13):1984-90. doi: 10.1002/mds.22744. Mov Disord. 2009. PMID: 19672994
Long-term miglustat therapy in children with Niemann-Pick disease type C.
Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE. Patterson MC, et al. Among authors: wraith je. J Child Neurol. 2010 Mar;25(3):300-5. doi: 10.1177/0883073809344222. Epub 2009 Oct 12. J Child Neurol. 2010. PMID: 19822772 Clinical Trial.
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.
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.
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.
206 results