Lau, Heather AViskochil, DavidTanpaiboon, PranootLopez, Antonio Gonzalez-MenesesMartins, EsmeraldaTaylor, JulieMalkus, BetsyZhang, LinJurecka, AgnieszkaMarsden, Deborah2023-05-032023-05-032022-03-09http://hdl.handle.net/10668/22551Mucopolysaccharidosis (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 subjectsenAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/GrowthHepatosplenomegalyMucopolysaccharidosis VIIPediatric patients.Urinary glycosaminoglycanVestronidase alfaChildEnzyme Replacement TherapyGlucuronidaseGlycosaminoglycansHepatomegalyHumansHydrolasesMucopolysaccharidosis VIISplenomegalyresearch article35331634open access10.1016/j.ymgme.2022.03.0021096-7206https://doi.org/10.1016/j.ymgme.2022.03.002