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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.