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Prenatal diagnosis of morquio's disease type a (n-acetylgalactosamine 6-sulphate sulphatase deficiency) |
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| Authors: | Kurt Von Figura J. J. Van De Kamp Martinus F. Niermeijer |
| Affiliation: | 1. Physiologisch-Chemisches Institut der Universitaet Muenster, Waldeyerstrasse 15, D 4400 Muenster, West Germany;2. Academisch Ziekenshuis, Department of Pediatrics, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands;3. Faculteit der Geneeskunde, Department Clinical Genetics, Erasmus Universiteit, Postbus 1738, 3000 DR Rotterdam, The Netherlands |
| Abstract: | Prenatal monitoring of three pregnancies at risk of Morquio's disease type A by determination of N-acetylgalactosamine 6-sulphate sulphatase activity in cultured amniotic cells is reported. In one pregnancy prenatal diagnosis of one affected fetus was made. Enzyme determinations in tissues of the aborted fetus confirmed the prenatal diagnosis. |
| Keywords: | Morquio's disease type A Mucopolysaccharidosis IV A N-acetylgalactosamine 6-sulphate sulphatase deficiency in fetus |