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Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up.
Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases.
Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4?years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency.
A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2 – A clinical update from the PROVIDE trial.
Age-dependent reference intervals for cerebrospinal fluid (CSF) and urine heparan sulfate (HS) and dermatan sulfate (DS) and CSF gangliosides.
Analysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II".
Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial).