First-trimester prenatal diagnosis of Sanfilippo C disease

1 October 1987

journal article
case report
Published by Wiley in Prenatal Diagnosis

Vol. 7 (8) , 603-605
https://doi.org/10.1002/pd.1970070811

Abstract

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: alpha-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.

Keywords

This publication has 5 references indexed in Scilit:

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Pediatric Research, 1984
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A 3H-labelled trisaccharide from heparin as substrate for acetyl:CoA: 2-amino-2-deoxy-α-d-glucoside N-acetyltransferase
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