An 8-year-old girl with a history of stiff and painful joints.

Raiman, Julian; D'Aco, Kristin

Raiman, Julian; D'Aco, Kristin.

Pediatr Ann ; 43(8): 307-9, 2014 Aug.

Article in En | MEDLINE | ID: mdl-25102484

Subject(s)

Arthralgia/genetics; Bone Diseases, Metabolic/genetics; Carpal Tunnel Syndrome/genetics; Glycosaminoglycans/genetics; Iduronidase/genetics; Mucopolysaccharidosis I/diagnosis; Mucopolysaccharidosis I/genetics; Mutation, Missense; Biomarkers/blood; Biomarkers/urine; Child; Consanguinity; Enzyme Replacement Therapy/methods; Female; Genotype; Glycosaminoglycans/urine; Homozygote; Humans; Iduronidase/blood; Iduronidase/therapeutic use; Mucopolysaccharidosis I/drug therapy; Mucopolysaccharidosis I/enzymology; Mucopolysaccharidosis I/urine; Phenotype; Rare Diseases; Treatment Outcome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Metabolic / Carpal Tunnel Syndrome / Mucopolysaccharidosis I / Arthralgia / Mutation, Missense / Glycosaminoglycans / Iduronidase Limits: Child / Female / Humans Language: En Journal: Pediatr Ann Year: 2014 Document type: Article Country of publication: United States

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