DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS

Human peripheral lymphocytes, granulocytes, and platelets contain the enzyme dihydropteridine reductase. A simple procedure and assay for diagnosing dihydropteridine reductase on peripheral blood is described. In twelve controls the level of enzyme activity in a lymphocyte-platelet preparation was 2...

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Veröffentlicht in:The Lancet (British edition) 1979-12, Vol.314 (8155), p.1260-1263
Hauptverfasser: Firgaira, FrankA, Cotton, RichardG.H., Danks, DavidM
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creator Firgaira, FrankA
Cotton, RichardG.H.
Danks, DavidM
description Human peripheral lymphocytes, granulocytes, and platelets contain the enzyme dihydropteridine reductase. A simple procedure and assay for diagnosing dihydropteridine reductase on peripheral blood is described. In twelve controls the level of enzyme activity in a lymphocyte-platelet preparation was 29.5±4.8 (SD) nmol NADH oxidised/min/mg protein. Two heterozygotes for dihydropteridine reductase deficiency had activities of 6·4 and 10·3 nmol NADH oxidised/min/mg protein, respectively.
doi_str_mv 10.1016/S0140-6736(79)92279-7
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source Elsevier ScienceDirect Journals
subjects Blood
Dihydropteridine reductase
Enzymatic activity
Enzyme activity
Enzymes
Heterozygotes
Leukocytes (granulocytic)
Lymphocytes
Medical diagnosis
NADH
Nicotinamide adenine dinucleotide
Peripheral blood
Platelets
Proteins
title DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS
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