Linked Life Data

16680390

Source:http://linkedlifedata.com/resource/pubmed/id/16680390

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-2-5
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0770-3198
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
335-41
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Rheumatologic aspects of lysosomal storage diseases.
pubmed:affiliation
Department of Medicine III, Institute for Clinical Immunology and Rheumatology, Friedrich-Alexander-University Erlangen-Nurnberg, Krankenhausstrasse 12, 91054, Erlangen, Germany. bernhard.manger@med3.imed.uni-erlangen.de
pubmed:publicationType
Journal Article, Case Reports