Summary
A pregnancy at risk for Wolman's disease was successfully monitored by assay of acid lipase activity in cultured amniotic fluid cells using the synthetic substrate 4-methylumbelliferyl oleate. A nonaffected fetus was detected showing heterozygosity for Wolman's disease. The healthy boy is now one year old.
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Christomanou, H., Čáp, C. Prenatal monitoring for wolman's disease in a pregnancy at risk. Hum Genet 57, 440–441 (1981). https://doi.org/10.1007/BF00281702
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DOI: https://doi.org/10.1007/BF00281702