Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0075-x/fulltext.html
Reference22 articles.
1. Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011–1017
2. Dornelles AD, de Camargo Pinto LL, de Paula AC et al (2014) Enzyme replacement therapy for Mucopolysaccharidosis type I among patients followed within the MPS Brazil network. Genet Mol Biol 37:23–29
3. Giugliani R, Lampe C, Guffon N et al (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 study. Am J Med Genet A 164A:1953–1964
4. Jones SA, Almassy Z, Beck M et al (2009) Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 32:534–543
5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254
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1. Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey;Molecular Genetics and Metabolism Reports;2023-12
2. Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey;JIMD Reports;2023-11-27
3. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT;Orphanet Journal of Rare Diseases;2023-11-02
4. Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II;Molecular Genetics and Metabolism;2023-11
5. Newborn screening for mucopolysaccharidosis type II: Lessons learned;Molecular Genetics and Metabolism;2023-09
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