Publication: Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
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Date
2022-03-09
Authors
Lau, Heather A
Viskochil, David
Tanpaiboon, Pranoot
Lopez, Antonio Gonzalez-Meneses
Martins, Esmeralda
Taylor, Julie
Malkus, Betsy
Zhang, Lin
Jurecka, Agnieszka
Marsden, Deborah
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Abstract
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
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MeSH Terms
Child
Enzyme Replacement Therapy
Glucuronidase
Glycosaminoglycans
Hepatomegaly
Humans
Hydrolases
Mucopolysaccharidosis VII
Splenomegaly
Enzyme Replacement Therapy
Glucuronidase
Glycosaminoglycans
Hepatomegaly
Humans
Hydrolases
Mucopolysaccharidosis VII
Splenomegaly
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Keywords
Growth, Hepatosplenomegaly, Mucopolysaccharidosis VII, Pediatric patients., Urinary glycosaminoglycan, Vestronidase alfa