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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.
In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial.
Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial.
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Translating a novel fetal therapy for lysosomal diseases into clinical care: The race for approval to treat one patient with mucopolysaccharidosis type VII.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Prenatal treatment of ornithine transcarbamylase deficiency.