Linked Life Data

2544090

Source:http://linkedlifedata.com/resource/pubmed/id/2544090

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1989-7-18
pubmed:abstractText
First trimester prenatal diagnosis of I-cell disease (1 case) was based on demonstration of profound deficiency of N-acetylglucosamine 1-phosphotransferase in chorionic villi and in cultured trophoblasts derived from the chorionic villus specimen. Deficiency of this enzyme in cultured amniotic fluid cells obtained via amniocentesis was the basis for prenatal diagnosis of I-cell disease in the second trimester (2 cases). In both procedures, the diagnosis was corroborated by the finding of intracellular deficiency and extracellular elevation of multiple lysosomal enzymes in the fetal cell cultures (trophoblasts and amniotic fluid cells), as well as a significant increase in several lysosomal enzyme activities in the maternal serum.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0002-9629
pubmed:author
pubmed:issnType
Print
pubmed:volume
297
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
361-4
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Prenatal diagnosis of I-cell disease in the first and second trimesters.
pubmed:affiliation
Department of Obstetrics Gynecology, C.S. Mott Center for Human Growth and Development, Wayne State University School of Medicine, Detroit, Michigan 48201.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't