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Human Mutation|May 30, 2009
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) geneMatthew Feldhammer, Stéphanie Durand, Lenka Mrázová, et al.
Molecular Genetics and Metabolism|August 4, 2009
Recommendations on the diagnosis and management of Niemann-Pick disease type C, James E Wraith, Matthias R Baumgartner, et al.
The Journal of Pediatrics|May 6, 2004
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)James E Wraith, Lorne A Clarke, Michael Beck, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Stuart J Swiedler, Michael Beck, Manal Bajbouj, et al.
Human Mutation|April 27, 2007
Mutational analysis of 105 mucopolysaccharidosis type VI patientsLitsa Karageorgos, Doug A Brooks, Anthony Pollard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndromeJoseph Muenzer, Michael Beck, Christine M Eng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2005
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndromeSatkiran S Grewal, Robert Wynn, Jose E Abdenur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2006
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Joseph Muenzer, James E Wraith, Michael Beck, et al.
European Journal of Immunology|May 16, 2012
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type CAnneliese O Speak, Nicholas Platt, Mariolina Salio, et al.
Blood|November 16, 2013
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, et al.
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