Linked Life Data

15895709

Source:http://linkedlifedata.com/resource/pubmed/id/15895709

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
447
pubmed:dateCreated
2005-5-17
pubmed:abstractText
Fabry disease is an X-linked glycosphingolipid storage disorder resulting from deficiency of alpha-galactosidase A. Storage of globotriaosylceramide ultimately results in multiorgan pathology, including cerebrovascular, cardiovascular and renal disease. Vascular involvement is evident throughout the body but the mechanisms by which storage on a cellular level leads to end-organ pathology are unknown. Here the evidence for abnormal blood flow, vessel architecture and endothelial function will be reviewed and possible models of vascular pathology discussed. The effects of reversal of storage within vessels by enzyme replacement therapy (ERT) and the possibilities for intervention with additional agents will be considered. Conclusion: The pathology of Fabry disease has an important vascular component, although the underlying pathophysiology is unclear. Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0803-5326
pubmed:author
pubmed:issnType
Print
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
28-33; discussion 9-10
pubmed:dateRevised
2008-5-12
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Vascular complications of Fabry disease: enzyme replacement and other therapies.
pubmed:affiliation
Department of Academic Haematology, Royal Free and University College Medical School, London, UK. da.hughes@rfc.ucl.ac.uk
pubmed:publicationType
Journal Article, Review