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Intravenous 2-hydroxypropyl-�-cyclodextrin (Trappsol� Cyclo�) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
DELETION OF UPSTREAM OTC REGULATORY ELEMENT IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY.
COBALAMIN TREATMENT STRATEGIES IN VITAMIN B12-RESPONSIVE COBALAMIN A-TYPE METHYLMALONIC ACIDEMIA.
Two-year results of the ASCEND trial of olipudase alfa adults with chronic acid sphingomyelinase deficiency show parallel improvements in former placebo patients and further improvement in continuing olipudase alfa patients.
eP025 The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia.
OP093 One-year results of the placebo-controlled ASCEND trial of olipudase alfa enzyme replacement therapy in adults with chronic acid sphingomyelinase deficiency.
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.