Linked Life Data

10464621

Source:http://linkedlifedata.com/resource/pubmed/id/10464621

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1999-9-28
pubmed:abstractText
Canavan disease, spongy degeneration of the brain, is an autosomal recessive disorder with increased prevalence among Ashkenazi Jews. The biochemical marker for this disease is increased levels of N-acetylaspartic acid, due to the defective enzyme, aspartoacylase. This discovery allowed for accurate diagnosis of the disease. The gene for aspartoacylase has been cloned and two mutations have been found to be responsible for Canavan disease among Ashkenazi Jewish patients in 98% of the cases. Molecular analysis of healthy Jewish individuals for these mutations has resulted in an unexpectedly high carrier frequency for Canavan disease among Jews. Therefore, carrier testing of the Jewish population is possible and indicated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-6576
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
21-5
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Canavan disease: diagnosis and molecular analysis.
pubmed:affiliation
Department of Pediatric and Human Biological Chemistry and Genetics, University of Texas Medical Branch, Galveston 77555-0359, USA.
pubmed:publicationType
Journal Article, Review