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Perspectives on the current diagnostic and treatment paradigms in secondary hemophagocytic lymphohistiocytosis (HLH).
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.
Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.
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.