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Caeruloplasmin isoforms in Wilson’s disease in neonates
Aim—To investigate the neonatal diagnosis of Wilson’s disease from caeruloplasmin isoforms in cord blood. METHODS Serum caeruloplasmin isoforms were measured in 5–10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting an...
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Published in: | Archives of disease in childhood. Fetal and neonatal edition 1998-11, Vol.79 (3), p.F198-F201 |
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container_title | Archives of disease in childhood. Fetal and neonatal edition |
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creator | Chowrimootoo, G F E Scowcroft, H Seymour, Carol A |
description | Aim—To investigate the neonatal diagnosis of Wilson’s disease from caeruloplasmin isoforms in cord blood. METHODS Serum caeruloplasmin isoforms were measured in 5–10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting and analysed by densitometry. Total caeruloplasmin concentrations were determined by nephelometry and caeruloplasmin oxidase by p-nitrophenyldiamine. RESULTS Although total caeruloplasmin concentrations are reduced in neonates, the plasma isoform was significantly reduced or absent in patients with Wilson’s disease. Sera from healthy neonates and from those with Wilson’s disease had reduced biliary isoforms. CONCLUSION Identification of caeruloplasmin isoforms may be a marker for Wilson’s disease in neonates. |
doi_str_mv | 10.1136/fn.79.3.F198 |
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METHODS Serum caeruloplasmin isoforms were measured in 5–10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting and analysed by densitometry. Total caeruloplasmin concentrations were determined by nephelometry and caeruloplasmin oxidase by p-nitrophenyldiamine. RESULTS Although total caeruloplasmin concentrations are reduced in neonates, the plasma isoform was significantly reduced or absent in patients with Wilson’s disease. Sera from healthy neonates and from those with Wilson’s disease had reduced biliary isoforms. CONCLUSION Identification of caeruloplasmin isoforms may be a marker for Wilson’s disease in neonates.</description><identifier>ISSN: 1359-2998</identifier><identifier>EISSN: 1468-2052</identifier><identifier>DOI: 10.1136/fn.79.3.F198</identifier><identifier>PMID: 10194991</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><subject>Adult ; Antioxidants - metabolism ; Biological and medical sciences ; Biomarkers - blood ; Blotting, Western ; caeruloplasmin isoforms ; Ceruloplasmin - analysis ; Copper ; copper excretion ; Densitometry ; Electrophoresis, Polyacrylamide Gel ; Errors of metabolism ; Fetal Blood - chemistry ; Hepatolenticular Degeneration - diagnosis ; Humans ; Infant, Newborn ; Medical sciences ; Metabolic diseases ; Metabolism ; Middle Aged ; Miscellaneous hereditary metabolic disorders ; Neonates ; Original ; Plasma ; Protein Isoforms - blood ; Proteins ; R&D ; Research & development ; Wilson’s disease</subject><ispartof>Archives of disease in childhood. Fetal and neonatal edition, 1998-11, Vol.79 (3), p.F198-F201</ispartof><rights>Royal College of Paediatrics and Child Health</rights><rights>1998 INIST-CNRS</rights><rights>Copyright: 1998 Royal College of Paediatrics and Child Health</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b507t-7a4994d58fc6ad5a8987c121bdbe96e662af6d55f51aa881143cf517676bb9ea3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720864/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720864/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2424285$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10194991$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chowrimootoo, G F E</creatorcontrib><creatorcontrib>Scowcroft, H</creatorcontrib><creatorcontrib>Seymour, Carol A</creatorcontrib><title>Caeruloplasmin isoforms in Wilson’s disease in neonates</title><title>Archives of disease in childhood. Fetal and neonatal edition</title><addtitle>Arch Dis Child Fetal Neonatal Ed</addtitle><description>Aim—To investigate the neonatal diagnosis of Wilson’s disease from caeruloplasmin isoforms in cord blood. METHODS Serum caeruloplasmin isoforms were measured in 5–10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting and analysed by densitometry. Total caeruloplasmin concentrations were determined by nephelometry and caeruloplasmin oxidase by p-nitrophenyldiamine. RESULTS Although total caeruloplasmin concentrations are reduced in neonates, the plasma isoform was significantly reduced or absent in patients with Wilson’s disease. Sera from healthy neonates and from those with Wilson’s disease had reduced biliary isoforms. CONCLUSION Identification of caeruloplasmin isoforms may be a marker for Wilson’s disease in neonates.</description><subject>Adult</subject><subject>Antioxidants - metabolism</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - blood</subject><subject>Blotting, Western</subject><subject>caeruloplasmin isoforms</subject><subject>Ceruloplasmin - analysis</subject><subject>Copper</subject><subject>copper excretion</subject><subject>Densitometry</subject><subject>Electrophoresis, Polyacrylamide Gel</subject><subject>Errors of metabolism</subject><subject>Fetal Blood - chemistry</subject><subject>Hepatolenticular Degeneration - diagnosis</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism</subject><subject>Middle Aged</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Neonates</subject><subject>Original</subject><subject>Plasma</subject><subject>Protein Isoforms - blood</subject><subject>Proteins</subject><subject>R&D</subject><subject>Research & development</subject><subject>Wilson’s disease</subject><issn>1359-2998</issn><issn>1468-2052</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><recordid>eNp9kc-KFDEQxoMo7rp68ywDynqxx6S78-8iuIPrioNe1F28hOruRDN2J2OqW_Tma_h6PokZehhWDxJCPlI_vvqKIuQ-o0vGKvHUhaXUy2p5zrS6QY5ZLVRRUl7ezLriuii1VkfkDuKGUsqklLfJEaNM11qzY6JXYNPUx20POPiw8BhdTAMusr70Pcbw--cvXHQeLaDd_QYbA4wW75JbDnq09_bvCXl__uLd6qJYv335avV8XTScyrGQkBvVHVeuFdBxUFrJlpWs6RqrhRWiBCc6zh1nAEoxVldt1lJI0TTaQnVCns2-26kZbNfaMCbozTb5AdIPE8GbvyvBfzaf4jfDZEmVqLPB6d4gxa-TxdEMHlvb95BHmdAIzTSXgmfw4T_gJk4p5OGyl6Iy31Jl6slMtSkiJusOURg1u40YF4zUpjK7jWT8wfX41-B5BRl4tAcAW-hdgtB6PHBlnY_ahStmzONovx_KkL4YISvJzZsPK7O-OPt49ZpdmcvMP575Ztj8P-EfqKCwsw</recordid><startdate>19981101</startdate><enddate>19981101</enddate><creator>Chowrimootoo, G F E</creator><creator>Scowcroft, H</creator><creator>Seymour, Carol A</creator><general>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19981101</creationdate><title>Caeruloplasmin isoforms in Wilson’s disease in neonates</title><author>Chowrimootoo, G F E ; Scowcroft, H ; Seymour, Carol A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b507t-7a4994d58fc6ad5a8987c121bdbe96e662af6d55f51aa881143cf517676bb9ea3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Antioxidants - metabolism</topic><topic>Biological and medical sciences</topic><topic>Biomarkers - blood</topic><topic>Blotting, Western</topic><topic>caeruloplasmin isoforms</topic><topic>Ceruloplasmin - analysis</topic><topic>Copper</topic><topic>copper excretion</topic><topic>Densitometry</topic><topic>Electrophoresis, Polyacrylamide Gel</topic><topic>Errors of metabolism</topic><topic>Fetal Blood - chemistry</topic><topic>Hepatolenticular Degeneration - diagnosis</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism</topic><topic>Middle Aged</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Neonates</topic><topic>Original</topic><topic>Plasma</topic><topic>Protein Isoforms - blood</topic><topic>Proteins</topic><topic>R&D</topic><topic>Research & development</topic><topic>Wilson’s disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chowrimootoo, G F E</creatorcontrib><creatorcontrib>Scowcroft, H</creatorcontrib><creatorcontrib>Seymour, Carol A</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Archives of disease in childhood. Fetal and neonatal edition</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chowrimootoo, G F E</au><au>Scowcroft, H</au><au>Seymour, Carol A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Caeruloplasmin isoforms in Wilson’s disease in neonates</atitle><jtitle>Archives of disease in childhood. Fetal and neonatal edition</jtitle><addtitle>Arch Dis Child Fetal Neonatal Ed</addtitle><date>1998-11-01</date><risdate>1998</risdate><volume>79</volume><issue>3</issue><spage>F198</spage><epage>F201</epage><pages>F198-F201</pages><issn>1359-2998</issn><eissn>1468-2052</eissn><abstract>Aim—To investigate the neonatal diagnosis of Wilson’s disease from caeruloplasmin isoforms in cord blood. METHODS Serum caeruloplasmin isoforms were measured in 5–10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting and analysed by densitometry. Total caeruloplasmin concentrations were determined by nephelometry and caeruloplasmin oxidase by p-nitrophenyldiamine. RESULTS Although total caeruloplasmin concentrations are reduced in neonates, the plasma isoform was significantly reduced or absent in patients with Wilson’s disease. Sera from healthy neonates and from those with Wilson’s disease had reduced biliary isoforms. CONCLUSION Identification of caeruloplasmin isoforms may be a marker for Wilson’s disease in neonates.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</pub><pmid>10194991</pmid><doi>10.1136/fn.79.3.F198</doi><oa>free_for_read</oa></addata></record> |
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subjects | Adult Antioxidants - metabolism Biological and medical sciences Biomarkers - blood Blotting, Western caeruloplasmin isoforms Ceruloplasmin - analysis Copper copper excretion Densitometry Electrophoresis, Polyacrylamide Gel Errors of metabolism Fetal Blood - chemistry Hepatolenticular Degeneration - diagnosis Humans Infant, Newborn Medical sciences Metabolic diseases Metabolism Middle Aged Miscellaneous hereditary metabolic disorders Neonates Original Plasma Protein Isoforms - blood Proteins R&D Research & development Wilson’s disease |
title | Caeruloplasmin isoforms in Wilson’s disease in neonates |
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