Linked Life Data

2830069

Source:http://linkedlifedata.com/resource/pubmed/id/2830069

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1988-4-7
pubmed:abstractText
First trimester prenatal diagnosis was offered to a couple at risk for having a child with I-cell disease (mucolipidosis II). The prenatal evaluation was based for the first time on examination of N-acetylglucosamine 1-phosphotransferase activity, deficiency of which is the primary biochemical defect in both I-cell disease and pseudo-Hurler polydystrophy (mucolipidosis III). Heterozygote levels of this enzyme activity were determined in chorionic villi obtained at 9 weeks of gestation, as well as in cultured trophoblasts derived from this specimen, and led to the diagnosis of an unaffected fetus. This procedure has advantages over that based on detection of abnormal intracellular-extracellular distribution of lysosomal enzyme activities, which is expressed only in homozygotes and fully expressed only in cell culture specimens.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
38-43
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay.
pubmed:affiliation
Department of Pediatrics, C. S. Mott Center for Human Growth and Development, Wayne State University, Detroit, Michigan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't