Prenatal diagnosis of mucolipidosis II (I-cell disease)
- 1 January 1976
- journal article
- conference paper
- Published by Springer Nature in European Journal of Nuclear Medicine and Molecular Imaging
- Vol. 122 (3) , 201-206
- https://doi.org/10.1007/bf00463738
Abstract
A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.This publication has 20 references indexed in Scilit:
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