RT Journal Article
T1 Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
A1 Lau, Heather A
A1 Viskochil, David
A1 Tanpaiboon, Pranoot
A1 Lopez, Antonio Gonzalez-Meneses
A1 Martins, Esmeralda
A1 Taylor, Julie
A1 Malkus, Betsy
A1 Zhang, Lin
A1 Jurecka, Agnieszka
A1 Marsden, Deborah
K1 Growth
K1 Hepatosplenomegaly
K1 Mucopolysaccharidosis VII
K1 Pediatric patients.
K1 Urinary glycosaminoglycan
K1 Vestronidase alfa
AB 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
YR 2022
FD 2022-03-09
LK http://hdl.handle.net/10668/22551
UL http://hdl.handle.net/10668/22551
LA en
DS RISalud
RD Apr 12, 2025