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Prenatal exclusion of Hurler's disease by leucocyte α-L-iduronidase assay |
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| Authors: | C H Rodeck Linda R Tansley P F Benson A H Fensom Marie Ellis |
| Institution: | 1. Department of Obstetrics and Gynaecology, King's College Hospital, London SE5 9RS, U.K.;2. Paediatric Research Unit, The Prince Philip Research Laboratories, Guy's Hospital Medical School, London SEI 9RT, U.K. |
| Abstract: | Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate. |
| Keywords: | Hurler's disease (MPS IH) α-L-iduronidase Fetoscopy Fetal leucocytes |