Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia |
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| Authors: | Dr Frank A Firgaira Richard G H Cotton David M Danks Kerry Fowler Anthony Lipson John S Yu |
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| Institution: | 1. Birth Defects Research Institute, Royal Children's Hospital Research Foundation, Melbourne, Australia;2. Royal Alexandra Hospital for Children, Camperdown, N.S.W., Australia |
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| Abstract: | Assay of dihydropteridine reductase in amniotic cells from a fetus at risk for malignant hyperphenylalaninemia is described. A normal result was obtained, this was confirmed after delivery. On two-dimensional polyacrylamide gel electrophoresis the enzyme from amniotic cells showed the same mobility as the mature liver reductase. |
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| Keywords: | Malignant hyperphenylalaninemia Dihydropteridine reductase |
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