Linked Life Data

9568915

Source:http://linkedlifedata.com/resource/pubmed/id/9568915

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-6-19
pubmed:abstractText
Canavan, an autosomal-recessive neurodegenerative disease, is caused by a deficiency of aspartoacylase. Most children are reported to have the infantile form, becoming symptomatic between 3 and 6 months of age, after an unremarkable prenatal and perinatal course. Congenital and juvenile onset forms, although uncommon, do occur. We collected clinical information from the parents of 60 children diagnosed with Canavan disease and reviewed the literature. We conclude that Canavan disease is prenatal in onset with variability in progression. The variable clinical course cannot be explained by genetic heterogeneity but probably depends on environmental factors and/or modifying genes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
207-12
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
The clinical course of Canavan disease.
pubmed:affiliation
Saul R. Korey Department of Neurology, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, USA.
pubmed:publicationType
Journal Article, Clinical Trial, Controlled Clinical Trial, Research Support, Non-U.S. Gov't