Article
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.
Scientific reports - 2 Dec 2016
Raymond Gerald V, Pasquali Marzia, Polgreen Lynda E, Dickson Patricia I, Miller Weston P, Orchard Paul J, Lund Troy C
Abstract excerpt
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the first decade due to cardio-pulmonary complications. New data suggest that inflammation may play a role in MPS...
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