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      Rheumatologic aspects of lysosomal storage diseases.

      Clinical Rheumatology
      Adult, Arthralgia, etiology, Fabry Disease, complications, diagnosis, immunology, Female, Gaucher Disease, Humans, Male, Mucopolysaccharidosis I, Rheumatic Diseases

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          Abstract

          Lysosomal storage diseases are rare metabolic disorders, some of which can now be treated using enzyme replacement therapies. Because the time point of treatment initiation significantly influences the outcome in Gaucher disease, Fabry disease, and mucopolysaccharidosis type I, early diagnosis is of utmost importance. All three disorders can present with musculoskeletal symptoms in early stages, therefore, the rheumatologist may be the first to be contacted by these patients. Here, we present three characteristic lysosomal storage disease cases to increase awareness in the rheumatological community of the typical symptom constellations associated with these rare but treatable disorders.

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          Author and article information

          Journal
          16680390
          10.1007/s10067-006-0299-x

          Chemistry
          Adult,Arthralgia,etiology,Fabry Disease,complications,diagnosis,immunology,Female,Gaucher Disease,Humans,Male,Mucopolysaccharidosis I,Rheumatic Diseases

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