Linked Life Data

16358237

Source:http://linkedlifedata.com/resource/pubmed/id/16358237

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2005-12-16
pubmed:abstractText
Anderson-Fabry disease is a rare inborn X-linked glycosphingolipid storage disorder in which the deficient activity of the enzyme alfa-galactosidase A (alfa-gal A) leads to the progressive tissular accumulation of lipidic molecules which, in turn, cause a protean pattern of multi-organ disfunction. Enzyme replacement therapy has recently become available and has proved to be effective in controlling the disorder. We present and discuss the case of a family with this disease, with special attention to the variability of clinical features and the difficulty of a correct diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1121-8428
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
770-2
pubmed:meshHeading
pubmed:articleTitle
Anderson-Fabry disease: a protean clinical behavior and a chance diagnosis.
pubmed:affiliation
Operative Unit of Nephrology and Dialysis, V. Cervello Hospital, Palermo - Italy.
pubmed:publicationType
Journal Article, Case Reports