Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 200

1.

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

Stepien KM, Lum SH, Wraith JE, Hendriksz CJ, Church HJ, Priestman D, Platt FM, Jones S, Jovanovic A, Wynn R.

JIMD Rep. 2018;41:17-23. doi: 10.1007/8904_2017_76. Epub 2017 Dec 7.

2.

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.

Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.

3.

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Kunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, Wynn RF, Vellodi A, Tolar J, Orchard PJ, Wraith JE.

JIMD Rep. 2016;29:95-102. Epub 2016 Jan 30.

4.

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

Cross EM, Grant S, Jones S, Bigger BW, Wraith JE, Mahon LV, Lomax M, Hare DJ.

J Neurodev Disord. 2014;6(1):46. doi: 10.1186/1866-1955-6-46. Epub 2014 Dec 31.

5.

Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I.

Watson HA, Holley RJ, Langford-Smith KJ, Wilkinson FL, van Kuppevelt TH, Wynn RF, Wraith JE, Merry CL, Bigger BW.

J Biol Chem. 2014 Dec 26;289(52):36194-203. doi: 10.1074/jbc.M114.599944. Epub 2014 Oct 30.

6.

Mucopolysaccharidosis type I.

Wraith JE, Jones S.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6. Review.

PMID:
25345091
7.

Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.

Arn P, Bruce IA, Wraith JE, Travers H, Fallet S.

Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.

8.

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 Survey Study.

Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P.

Am J Med Genet A. 2014 Aug;164A(8):1953-64. doi: 10.1002/ajmg.a.36584. Epub 2014 Apr 24.

9.

Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (Hurler syndrome).

Yasin MN, Sacho R, Oxborrow NJ, Wraith JE, Williamson JB, Siddique I.

Spine (Phila Pa 1976). 2014 Mar 1;39(5):381-7. doi: 10.1097/BRS.0000000000000157.

PMID:
24573070
10.

Assessment of sleep in children with mucopolysaccharidosis type III.

Mahon LV, Lomax M, Grant S, Cross E, Hare DJ, Wraith JE, Jones S, Bigger B, Langford-Smith K, Canal M.

PLoS One. 2014 Feb 4;9(2):e84128. doi: 10.1371/journal.pone.0084128. eCollection 2014.

11.

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.

J Clin Invest. 2014 Mar;124(3):1320-8.

12.

Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.

Jameson E, Jones S, Wraith JE.

Cochrane Database Syst Rev. 2013 Nov 21;(11):CD009354. doi: 10.1002/14651858.CD009354.pub3. Review. Update in: Cochrane Database Syst Rev. 2016;4:CD009354.

PMID:
24257962
13.

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.

Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14.

14.

Signal one and two blockade are both critical for non-myeloablative murine HSCT across a major histocompatibility complex barrier.

Langford-Smith KJ, Sandiford Z, Langford-Smith A, Wilkinson FL, Jones SA, Wraith JE, Wynn RF, Bigger BW.

PLoS One. 2013 Oct 17;8(10):e77632. doi: 10.1371/journal.pone.0077632. eCollection 2013.

15.

Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I.

Jameson E, Jones S, Wraith JE.

Cochrane Database Syst Rev. 2013 Sep 26;(9):CD009354. doi: 10.1002/14651858.CD009354.pub2. Review. Update in: Cochrane Database Syst Rev. 2013;(11):CD009354.

PMID:
24085657
16.

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

Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Chadha-Boreham H, Kolb SA.

J Inherit Metab Dis. 2014 Jan;37(1):93-101. doi: 10.1007/s10545-013-9626-y. Epub 2013 Jun 21.

17.

Natural history of alpha mannosidosis a longitudinal study.

Beck M, Olsen KJ, Wraith JE, Zeman J, Michalski JC, Saftig P, Fogh J, Malm D.

Orphanet J Rare Dis. 2013 Jun 20;8:88. doi: 10.1186/1750-1172-8-88.

18.

Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease.

Sergijenko A, Langford-Smith A, Liao AY, Pickford CE, McDermott J, Nowinski G, Langford-Smith KJ, Merry CL, Jones SA, Wraith JE, Wynn RF, Wilkinson FL, Bigger BW.

Mol Ther. 2013 Oct;21(10):1938-49. doi: 10.1038/mt.2013.141. Epub 2013 Jun 7.

19.

Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome).

Malik V, Nichani J, Rothera MP, Wraith JE, Jones SA, Walker R, Bruce IA.

Int J Pediatr Otorhinolaryngol. 2013 Jul;77(7):1204-8. doi: 10.1016/j.ijporl.2013.05.002. Epub 2013 May 31.

PMID:
23726952
20.

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.

Laraway S, Breen C, Mercer J, Jones S, Wraith JE.

Mol Genet Metab. 2013 Jul;109(3):315-6. doi: 10.1016/j.ymgme.2013.04.023. Epub 2013 May 10.

PMID:
23721889

Supplemental Content

Loading ...
Support Center