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Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

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dc.contributor.authorLau, Heather A
dc.contributor.authorViskochil, David
dc.contributor.authorTanpaiboon, Pranoot
dc.contributor.authorLopez, Antonio Gonzalez-Meneses
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorTaylor, Julie
dc.contributor.authorMalkus, Betsy
dc.contributor.authorZhang, Lin
dc.contributor.authorJurecka, Agnieszka
dc.contributor.authorMarsden, Deborah
dc.date.accessioned2023-05-03T15:20:03Z
dc.date.available2023-05-03T15:20:03Z
dc.date.issued2022-03-09
dc.description.abstractMucopolysaccharidosis (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
dc.identifier.doi10.1016/j.ymgme.2022.03.002
dc.identifier.essn1096-7206
dc.identifier.pmid35331634
dc.identifier.unpaywallURLhttps://doi.org/10.1016/j.ymgme.2022.03.002
dc.identifier.urihttp://hdl.handle.net/10668/22551
dc.issue.number1
dc.journal.titleMolecular genetics and metabolism
dc.journal.titleabbreviationMol Genet Metab
dc.language.isoen
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number28-37
dc.pubmedtypeClinical Trial, Phase II
dc.pubmedtypeJournal Article
dc.pubmedtypeMulticenter Study
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectGrowth
dc.subjectHepatosplenomegaly
dc.subjectMucopolysaccharidosis VII
dc.subjectPediatric patients.
dc.subjectUrinary glycosaminoglycan
dc.subjectVestronidase alfa
dc.subject.meshChild
dc.subject.meshEnzyme Replacement Therapy
dc.subject.meshGlucuronidase
dc.subject.meshGlycosaminoglycans
dc.subject.meshHepatomegaly
dc.subject.meshHumans
dc.subject.meshHydrolases
dc.subject.meshMucopolysaccharidosis VII
dc.subject.meshSplenomegaly
dc.titleLong-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number136
dspace.entity.typePublication

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