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Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia
Author(s) -
Firgaira Frank A.,
Cotton Richard G. H.,
Danks David M.,
Fowler Kerry,
Lipson Anthony,
Yu John S.
Publication year - 1983
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970030103
Subject(s) - hyperphenylalaninemia , fetus , amniotic fluid , prenatal diagnosis , amniocentesis , phenylketonurias , medicine , pregnancy , chemistry , biology , biochemistry , phenylalanine , genetics , amino acid
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.