title: An 8-year-old girl with a history of stiff and painful joints.
authors.forename: Julian
authors.initials: J
authors.lastname: Raiman
authors.forename: Kristin
authors.initials: K
authors.lastname: D'Aco
mesh_terms: D018771:Arthralgia / Q000235:genetics*; D015415:Biomarkers / Q000097:blood / Q000652:urine; D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002349:Carpal Tunnel Syndrome / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005838:Genotype; D006025:Glycosaminoglycans / Q000235:genetics* / Q000652:urine; D006720:Homozygote; D006801:Humans; D007068:Iduronidase / Q000097:blood / Q000235:genetics* / Q000627:therapeutic use; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics* / Q000652:urine; D020125:Mutation, Missense; D010641:Phenotype; D035583:Rare Diseases; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D006025:Glycosaminoglycans; D007068:Iduronidase