[HTML][HTML] Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter …
P Harmatz, J Muenzer, F Ezgü, P Dalén… - Molecular Genetics and …, 2022 - Elsevier
Abstract Purpose Mucopolysaccharidosis IIIA (MPS IIIA) is an inherited lysosomal storage
disorder caused by mutations in the N-sulfoglucosamine sulfohydrolase gene that result in
deficient enzymatic degradation of heparan sulfate (HS), resulting in progressive
neurodegeneration in early childhood and premature death. A chemically modified variant of
recombinant human sulfamidase, SOBI003, has shown to cross the blood-brain barrier
(BBB) in mice and achieve pharmacologically relevant levels in cerebrospinal fluid (CSF) …
disorder caused by mutations in the N-sulfoglucosamine sulfohydrolase gene that result in
deficient enzymatic degradation of heparan sulfate (HS), resulting in progressive
neurodegeneration in early childhood and premature death. A chemically modified variant of
recombinant human sulfamidase, SOBI003, has shown to cross the blood-brain barrier
(BBB) in mice and achieve pharmacologically relevant levels in cerebrospinal fluid (CSF) …
