%0 Journal Article
%A Lau, Heather A
%A Viskochil, David
%A Tanpaiboon, Pranoot
%A Lopez, Antonio Gonzalez-Meneses
%A Martins, Esmeralda
%A Taylor, Julie
%A Malkus, Betsy
%A Zhang, Lin
%A Jurecka, Agnieszka
%A Marsden, Deborah
%T Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
%D 2022
%U http://hdl.handle.net/10668/22551
%X Mucopolysaccharidosis (MPS) VII is an ultra-rare, autosomal-recessive, metabolic disease caused by a deficiency of β-glucuronidase, a lysosomal enzyme that hydrolyzes glycosaminoglycans (GAGs), including dermatan sulfate (DS), chondroitin sulfate, and heparan sulfate (HS). β-glucuronidase deficiency leads to progressive accumulation of undegraded GAGs in lysosomes of affected tissues, which may cause hydrops fetalis, short stature, hepatosplenomegaly, and cognitive impairment. An open-label, multicenter, phase II study was conducted in 8 pediatric subjects
%K Growth
%K Hepatosplenomegaly
%K Mucopolysaccharidosis VII
%K Pediatric patients.
%K Urinary glycosaminoglycan
%K Vestronidase alfa
%~