Publications by authors named "James E Wraith"

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Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Tobias Schwerd, Sumeet Pandey, Huei-Ting Yang, Katrin Bagola, Elisabeth Jameson, James E Wraith

Gut· June 2017

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Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.
Pamela Arn, Iain A Bruce, James E Wraith, Helen Travers, Shari Fallet

Ann Otol Rhinol Laryngol· March 2015

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An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.
Elaine M Cross, Sheena Grant, Simon Jones, Brian W Bigger, James E Wraith

J Neurodev Disord· February 2015

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Assessment of sleep in children with mucopolysaccharidosis type III.
Louise Victoria Mahon, Michelle Lomax, Sheena Grant, Elaine Cross, Dougal Julian Hare, James Ed Wraith

PLoS One· December 2014

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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.
Roberto Giugliani, Christina Lampe, Nathalie Guffon, David Ketteridge, Elisa Leão-Teles, James E Wraith

Am J Med Genet A· August 2014

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Mucopolysaccharidoses and mucolipidoses.
James Edmond Wraith

Handb Clin Neurol· March 2014

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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
Danielle te Vruchte, Anneliese O Speak, Kerri L Wallom, Nada Al Eisa, David A Smith, James E Wraith

J Clin Invest· March 2014

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Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.
James E Wraith, Frédéric Sedel, Mercèdes Pineda, Frits A Wijburg, Christian J Hendriksz

J Inherit Metab Dis· January 2014

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Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, Anthony J Morgan, David A Smith, James E Wraith

Blood· January 2014

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Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Elisabeth Jameson, Simon Jones, James E Wraith

Cochrane Database Syst Rev· November 2013

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Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I.
Elisabeth Jameson, Simon Jones, James E Wraith

Cochrane Database Syst Rev· September 2013

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Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.
Sarah Laraway, Catherine Breen, Jean Mercer, Simon Jones, James E Wraith

Mol Genet Metab· July 2013

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Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome).
Vikas Malik, Jaya Nichani, Michael P Rothera, James Edmond Wraith, Simon A Jones

Int J Pediatr Otorhinolaryngol· July 2013

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Natural history of alpha mannosidosis a longitudinal study.
Michael Beck, Klaus J Olsen, James E Wraith, Jiri Zeman, Jean-Claude Michalski

Orphanet J Rare Dis· June 2013

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Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID).
Sheena Grant, Elaine Cross, James Edmond Wraith, Simon Jones, Louise Mahon

J Inherit Metab Dis· March 2013

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Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Anneliese O Speak, Nicholas Platt, Mariolina Salio, Danielle te Vruchte, David A Smith, James E Wraith

Eur J Immunol· July 2012

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, James E Wraith

Orphanet J Rare Dis· November 2011

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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat.
James E Wraith, Jackie Imrie

Ther Clin Risk Manag· July 2011

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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Joseph Muenzer, Michael Beck, Christine M Eng, Roberto Giugliani, Paul Harmatz, James E Wraith

Genet Med· February 2011

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Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
Joseph Muenzer, Michael Beck, Roberto Giugliani, Yasuyuki Suzuki, Anna Tylki-Szymanska, James E Wraith

Genet Med· February 2011

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Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.
Denise K Bonney, Anne O'Meara, Abdu Shabani, Jackie Imrie, Brian W Bigger, James E Wraith

J Inherit Metab Dis· December 2010

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Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Bianca Link, Louise Lapagesse de Camargo Pinto, Roberto Giugliani, James Edmond Wraith, Nathalie Guffon

Orthop Rev (Pavia)· September 2010

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Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial.
James E Wraith, Darleen Vecchio, Elizabeth Jacklin, Larry Abel, Harbajan Chadha-Boreham

Mol Genet Metab· April 2010

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Long-term miglustat therapy in children with Niemann-Pick disease type C.
Marc C Patterson, Darleen Vecchio, Elizabeth Jacklin, Larry Abel, Harbajan Chadha-Boreham, James E Wraith

J Child Neurol· March 2010

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Spiral analysis in Niemann-Pick disease type C.
Annie W Hsu, Panida A Piboolnurak, Alicia G Floyd, Qiping P Yu, James E Wraith

Mov Disord· October 2009

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