Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1980-11-25
pubmed:abstractText
Biochemical abnormalities similar to those observed in cultured fibroblasts of patients with mucolipidosis type IV were demonstrated in cultured amniotic fluid cells of two fetuses affected with mucolipidosis IV. Increased gangliosides and acid mucopolysaccharides were observed in the affected cultures when compared to two normal controls. Both GM3 (monosialo) and GD3 (disialo) gangliosides accumulated in the affected cells: the latter showing a three-fold and the former a two-fold increase over controls. The major mucopolysaccharide components were dermatan sulfate and heparan sulfate, both increased approximately four-fold. A partial, but significant deficiency of soluble ganglioside sialidase was observed in the two affected cultures, while this activity was normal in a culture of a non-affected fetus of the same mother in a third pregnancy. Non-soluble membrane-bound and neuraminlactose sialidase was not affected.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0009-8981
pubmed:author
pubmed:issnType
Print
pubmed:day
25
pubmed:volume
106
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
121-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Biochemical investigations of cultured amniotic fluid cells in mucolipidosis type IV.
pubmed:publicationType
Journal Article