Linked Life Data

6712687

Source:http://linkedlifedata.com/resource/pubmed/id/6712687

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1984-5-21
pubmed:abstractText
We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e. acyl-CoA:dihydroxyacetone phosphate acyltransferase in liver, brain and cultured skin fibroblasts from Zellweger patients and controls. The results indicate a severe deficiency of this enzyme in Zellweger patients. Thus, the Zellweger syndrome constitutes the first inborn error of metabolism with a deficiency in an enzyme involved in phospholipid biosynthesis. Cultured amniotic fluid cells contained an enzymatic activity comparable to that of control fibroblasts. These findings suggest a method for prenatal diagnosis of this disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
16
pubmed:volume
120
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
179-84
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't