Linked Life Data

17063070

Source:http://linkedlifedata.com/resource/pubmed/id/17063070

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2006-10-25
pubmed:abstractText
Anderson-Fabry's disease (AFD) is a rare inborn X-linked sphingolipid storage disorder. Deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GAL-A) leads to progressive accumulation of glycosphingolipids within most visceral tissues and body fluids of affected patients, provoking a clinical syndrome that includes nervous system, renal, cardiac, ophthalmologic and cutaneous manifestations. Also heterozygous women, who had been considered as healthy carriers until recently, often demonstrate clinical signs of multi-organ involvement. In older women these manifestations are frequently attributed to other more common conditions of older age, and a genetic disorder is rarely hypothesized. We report the cases of two elderly women, who had been diagnosed with AFD at the ages of 70 and 74. Although it is a rare disease, AFD should be considered as a diagnostic hypothesis in women with a clinical history of cardiomyopathy and vascular encephalopathy, appearing at ages 40-50 without identification of major vascular risk factors.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1594-0667
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
340-3
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Diagnosis of Anderson-Fabry's disease in over seventy-year-old women: description of two cases.
pubmed:affiliation
Departments of Neurological Sciences, University of Florence, Viale Morgagni 85, 50134 Florence, Italy.
pubmed:publicationType
Journal Article, Case Reports