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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.
Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial).
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
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.