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 |
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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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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.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(79)92279-7</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>Blood ; Dihydropteridine reductase ; Enzymatic activity ; Enzyme activity ; Enzymes ; Heterozygotes ; Leukocytes (granulocytic) ; Lymphocytes ; Medical diagnosis ; NADH ; Nicotinamide adenine dinucleotide ; Peripheral blood ; Platelets ; Proteins</subject><ispartof>The Lancet (British edition), 1979-12, Vol.314 (8155), p.1260-1263</ispartof><rights>1979</rights><rights>Copyright Elsevier Limited Dec 15, 1979</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c250t-214c4dd1db8d21aef40512f200b8097276346b78b611f94c92f580ee316f85663</citedby><cites>FETCH-LOGICAL-c250t-214c4dd1db8d21aef40512f200b8097276346b78b611f94c92f580ee316f85663</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0140-6736(79)92279-7$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,45974</link.rule.ids></links><search><creatorcontrib>Firgaira, FrankA</creatorcontrib><creatorcontrib>Cotton, RichardG.H.</creatorcontrib><creatorcontrib>Danks, DavidM</creatorcontrib><title>DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS</title><title>The Lancet (British edition)</title><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.</description><subject>Blood</subject><subject>Dihydropteridine reductase</subject><subject>Enzymatic activity</subject><subject>Enzyme activity</subject><subject>Enzymes</subject><subject>Heterozygotes</subject><subject>Leukocytes (granulocytic)</subject><subject>Lymphocytes</subject><subject>Medical diagnosis</subject><subject>NADH</subject><subject>Nicotinamide adenine dinucleotide</subject><subject>Peripheral blood</subject><subject>Platelets</subject><subject>Proteins</subject><issn>0140-6736</issn><issn>1474-547X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1979</creationdate><recordtype>article</recordtype><recordid>eNqFkM9LwzAYhoMoOKd_glDwoodqkuZHe5KuzbZAaUezgT2FtU2hQ9eZboL_vd0mXj19l-d9X74HgHsEnxFE7EVBRKDLuMceefAUYMwDl1-AESKcuJTwt0sw-kOuwU3fbyCEhEE6AiqW8yLOs8VS5DKWqXByEa-iZaiEE4upjKRIo8KJZThLMyWVMymcUKmwUE6WOoshtJiLPEycSZJlsRuJJFG34KpZv_fm7veOwWoqltHcTbKZjMLErTCFexcjUpG6RnXp1xitTUMgRbjBEJY-DDjmzCOs5H7JEGoCUgW4oT40xkOs8Slj3hg8nHt3tvs8mH6vN93BbodJjRFFiPkY04GiZ6qyXd9b0-idbT_W9lsjqI_-9MmfPsrRPNAnf5oPuddzzgwvfLXG6r5qzbYydWtNtdd11_7T8AMbYm52</recordid><startdate>19791215</startdate><enddate>19791215</enddate><creator>Firgaira, FrankA</creator><creator>Cotton, RichardG.H.</creator><creator>Danks, DavidM</creator><general>Elsevier Ltd</general><general>Elsevier Limited</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7QP</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>ASE</scope><scope>C1K</scope><scope>FPQ</scope><scope>H94</scope><scope>K6X</scope><scope>K9.</scope><scope>KB~</scope><scope>M7N</scope><scope>NAPCQ</scope></search><sort><creationdate>19791215</creationdate><title>DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS</title><author>Firgaira, FrankA ; Cotton, RichardG.H. ; Danks, DavidM</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c250t-214c4dd1db8d21aef40512f200b8097276346b78b611f94c92f580ee316f85663</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1979</creationdate><topic>Blood</topic><topic>Dihydropteridine reductase</topic><topic>Enzymatic activity</topic><topic>Enzyme activity</topic><topic>Enzymes</topic><topic>Heterozygotes</topic><topic>Leukocytes (granulocytic)</topic><topic>Lymphocytes</topic><topic>Medical diagnosis</topic><topic>NADH</topic><topic>Nicotinamide adenine dinucleotide</topic><topic>Peripheral blood</topic><topic>Platelets</topic><topic>Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Firgaira, FrankA</creatorcontrib><creatorcontrib>Cotton, RichardG.H.</creatorcontrib><creatorcontrib>Danks, DavidM</creatorcontrib><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>British Nursing Index</collection><collection>Environmental Sciences and Pollution Management</collection><collection>British Nursing Index (BNI) (1985 to Present)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>British Nursing Index</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Newsstand Professional</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><jtitle>The Lancet (British edition)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Firgaira, FrankA</au><au>Cotton, RichardG.H.</au><au>Danks, DavidM</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS</atitle><jtitle>The Lancet (British edition)</jtitle><date>1979-12-15</date><risdate>1979</risdate><volume>314</volume><issue>8155</issue><spage>1260</spage><epage>1263</epage><pages>1260-1263</pages><issn>0140-6736</issn><eissn>1474-547X</eissn><abstract>Human peripheral lymphocytes, granulocytes, and platelets contain the enzyme dihydropteridine reductase. 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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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