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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
Main Authors: Chowrimootoo, G F E, Scowcroft, H, Seymour, Carol A
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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.
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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&amp;D ; Research &amp; development ; Wilson’s disease</subject><ispartof>Archives of disease in childhood. 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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. 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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&amp;D</topic><topic>Research &amp; 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 &amp; 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 &amp; 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identifier ISSN: 1359-2998
ispartof Archives of disease in childhood. Fetal and neonatal edition, 1998-11, Vol.79 (3), p.F198-F201
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1468-2052
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source PubMed Central
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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