Rheumatologic aspects of lysosomal storage diseases.

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.

journal_name

Clin Rheumatol

journal_title

Clinical rheumatology

authors

Manger B,Mengel E,Schaefer RM

doi

10.1007/s10067-006-0299-x

subject

Has Abstract

pub_date

2007-03-01 00:00:00

pages

335-41

issue

3

eissn

0770-3198

issn

1434-9949

journal_volume

26

pub_type

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