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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2011
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome SurveyJoseph Muenzer, Michael Beck, Roberto Giugliani, et al.Molecular Genetics and Metabolism|January 5, 2010
Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trialJames E Wraith, Darleen Vecchio, Elizabeth Jacklin, et al.Orphanet Journal of Rare Diseases|June 22, 2013
Natural history of alpha mannosidosis a longitudinal studyMichael Beck, Klaus J Olsen, James E Wraith, et al.Journal of Child Neurology|October 14, 2009
Long-term miglustat therapy in children with Niemann-Pick disease type CMarc C Patterson, Darleen Vecchio, Elizabeth Jacklin, et al.Journal of Inherited Metabolic Disease|April 16, 2010
Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effectDenise K Bonney, Anne O'Meara, Abdu Shabani, et al.Journal of Neurodevelopmental Disorders|February 7, 2015
An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-IIIElaine M Cross, Sheena Grant, Simon Jones, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 13, 2009
Spiral analysis in Niemann-Pick disease type CAnnie W Hsu, Panida A Piboolnurak, Alicia G Floyd, et al.Journal of Inherited Metabolic Disease|June 25, 2013
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestationsJames E Wraith, Frédéric Sedel, Mercèdes Pineda, et al.American Journal of Medical Genetics. Part A|April 26, 2014
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 StudyRoberto Giugliani, Christina Lampe, Nathalie Guffon, et al.The Journal of Biological Chemistry|August 5, 2004
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesisTerttu Suormala, Matthias R Baumgartner, David Coelho, et al.Pageof 4