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Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Mucopolysaccharidosis VI.