Original paper
Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII
Abstract
Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient activity of β-glucuronidase, leading to progressive accumulation of incompletely degraded heparan, dermatan, and chondroitin sulfate glycosaminoglycans (GAGs). Patients with MPS VII exhibit progressive skeletal deformity including kyphoscoliosis and joint dysplasia, which decrease quality of life and increase mortality. Previously, using the...
Paper Details
Title
Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII
Published Date
Nov 1, 2019
Journal
Volume
128
Pages
115042 - 115042
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Notes
History