Linked Life Data

6770331

Source:http://linkedlifedata.com/resource/pubmed/id/6770331

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1980-8-15
pubmed:abstractText
A prenatal diagnosis of Mucopolysaccharidosis II (M. Hunter) was made early in a pregnancy at risk in a family with one affected child. An affected fetus was diagnosed on the basis of an abnormal incorporation and degradation of 35SO4 in 35SO4-labeled mucopolysaccharides in cultured amniotic cells. Dermatan sulfate and heparin sulfate concentrations in the supernatant of the amniotic fluid were high. In the aborted fetus, the diagnosis could be confirmed by 35SO4 incorporation studies in the cultured fibroblasts and in cultured brain cells as well as by the deficiency of the specific enzyme activity (iduronide sulfate sulfatase) in the organs of the fetus. beta-Galactosidase was in the low normal range in liver and spleen but significantly reduced in brain. Under electron microscopy, the mesenchymal cells of liver and spleen showed lysosomal storage of material, presumably mucopolysaccharides, in excess of normal. In the neurons of the spinal ganglia and spinal cord, "Zebra bodies" in statu nascendi were observed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0031-3998
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
749-56
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study.
pubmed:publicationType
Journal Article