container_end_page 795
container_issue 4
container_start_page 779
container_title British journal of haematology
container_volume 117
creator Dsnick, Robert J.
Astrin, Kenneth H.
description
doi_str_mv 10.1046/j.1365-2141.2002.03557.x
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_71803677</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>71803677</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5117-dc14fe614fb35ad636ac8b11083a3a60433bef3ae06dae6748cbee54cfe7e2543</originalsourceid><addsrcrecordid>eNqNkMtu2zAQRYkgReI8fqHQptlJnREpUijQRWvk1QboplkTI2oU05AllZST-O8rxUaz7WY4AM8lL44QCUKGoPTndYZSF2mOCrMcIM9AFoXJXo_E4t_FsVgAgEmnQHkqzmJcA6CEAk_EKeagATFfiJ_Lvnvizo_UJhx24yr0Q-959C4Z-jCsdsHTl4TqZ-ocx8R3yUDjqp8iHH1MqKuTMTCNG-7GC_GhoTby5eE8F48317-Xd-nDr9v75beH1BWIJq0dqob1NCpZUK2lJldWiFBKkqRBSVlxI4lB18TaqNJVzIVyDRvOCyXPxdX-3SH0f7YcR7vx0XHbUsf9NlqDJUhtzASWe9CFPsbAjR2C31DYWQQ7i7RrO_uysy87i7RvIu3rFP14-GNbbbh-Dx7MTcCnA0DRUduESZCP75w0Kgc1d_i65158y7v_LmC__7ibN_kX7OqPlg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>71803677</pqid></control><display><type>article</type><title>Congenital erythropoietic porphyria: advances in pathogenesis and treatment</title><source>Wiley Free Content</source><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Dsnick, Robert J. ; Astrin, Kenneth H.</creator><creatorcontrib>Dsnick, Robert J. ; Astrin, Kenneth H.</creatorcontrib><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.2002.03557.x</identifier><identifier>PMID: 12060112</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>Animals ; Base Sequence ; Biological and medical sciences ; Bone Marrow Transplantation ; bone marrow trans‐plantation ; Bullous diseases of the skin ; congenital erythropoietic porphyria ; Dermatology ; Errors of metabolism ; gene therapy ; Genetic Therapy ; Hematopoietic Stem Cell Transplantation ; Heme - biosynthesis ; Humans ; Infant, Newborn ; Medical sciences ; Metabolic diseases ; Mice ; Mice, Knockout ; Miscellaneous hereditary metabolic disorders ; Molecular Sequence Data ; Mutation ; porphyria ; Porphyria, Erythropoietic - etiology ; Porphyria, Erythropoietic - genetics ; Porphyria, Erythropoietic - therapy ; Research Design ; uroporphyrinogen III synthase ; Uroporphyrinogen III Synthetase - genetics</subject><ispartof>British journal of haematology, 2002-06, Vol.117 (4), p.779-795</ispartof><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5117-dc14fe614fb35ad636ac8b11083a3a60433bef3ae06dae6748cbee54cfe7e2543</citedby><cites>FETCH-LOGICAL-c5117-dc14fe614fb35ad636ac8b11083a3a60433bef3ae06dae6748cbee54cfe7e2543</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj.1365-2141.2002.03557.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1365-2141.2002.03557.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=13742047$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12060112$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dsnick, Robert J.</creatorcontrib><creatorcontrib>Astrin, Kenneth H.</creatorcontrib><title>Congenital erythropoietic porphyria: advances in pathogenesis and treatment</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Bone Marrow Transplantation</subject><subject>bone marrow trans‐plantation</subject><subject>Bullous diseases of the skin</subject><subject>congenital erythropoietic porphyria</subject><subject>Dermatology</subject><subject>Errors of metabolism</subject><subject>gene therapy</subject><subject>Genetic Therapy</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Heme - biosynthesis</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mice</subject><subject>Mice, Knockout</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>porphyria</subject><subject>Porphyria, Erythropoietic - etiology</subject><subject>Porphyria, Erythropoietic - genetics</subject><subject>Porphyria, Erythropoietic - therapy</subject><subject>Research Design</subject><subject>uroporphyrinogen III synthase</subject><subject>Uroporphyrinogen III Synthetase - genetics</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtu2zAQRYkgReI8fqHQptlJnREpUijQRWvk1QboplkTI2oU05AllZST-O8rxUaz7WY4AM8lL44QCUKGoPTndYZSF2mOCrMcIM9AFoXJXo_E4t_FsVgAgEmnQHkqzmJcA6CEAk_EKeagATFfiJ_Lvnvizo_UJhx24yr0Q-959C4Z-jCsdsHTl4TqZ-ocx8R3yUDjqp8iHH1MqKuTMTCNG-7GC_GhoTby5eE8F48317-Xd-nDr9v75beH1BWIJq0dqob1NCpZUK2lJldWiFBKkqRBSVlxI4lB18TaqNJVzIVyDRvOCyXPxdX-3SH0f7YcR7vx0XHbUsf9NlqDJUhtzASWe9CFPsbAjR2C31DYWQQ7i7RrO_uysy87i7RvIu3rFP14-GNbbbh-Dx7MTcCnA0DRUduESZCP75w0Kgc1d_i65158y7v_LmC__7ibN_kX7OqPlg</recordid><startdate>200206</startdate><enddate>200206</enddate><creator>Dsnick, Robert J.</creator><creator>Astrin, Kenneth H.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><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>7X8</scope></search><sort><creationdate>200206</creationdate><title>Congenital erythropoietic porphyria: advances in pathogenesis and treatment</title><author>Dsnick, Robert J. ; Astrin, Kenneth H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5117-dc14fe614fb35ad636ac8b11083a3a60433bef3ae06dae6748cbee54cfe7e2543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Bone Marrow Transplantation</topic><topic>bone marrow trans‐plantation</topic><topic>Bullous diseases of the skin</topic><topic>congenital erythropoietic porphyria</topic><topic>Dermatology</topic><topic>Errors of metabolism</topic><topic>gene therapy</topic><topic>Genetic Therapy</topic><topic>Hematopoietic Stem Cell Transplantation</topic><topic>Heme - biosynthesis</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Mice</topic><topic>Mice, Knockout</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>porphyria</topic><topic>Porphyria, Erythropoietic - etiology</topic><topic>Porphyria, Erythropoietic - genetics</topic><topic>Porphyria, Erythropoietic - therapy</topic><topic>Research Design</topic><topic>uroporphyrinogen III synthase</topic><topic>Uroporphyrinogen III Synthetase - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dsnick, Robert J.</creatorcontrib><creatorcontrib>Astrin, Kenneth H.</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dsnick, Robert J.</au><au>Astrin, Kenneth H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital erythropoietic porphyria: advances in pathogenesis and treatment</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2002-06</date><risdate>2002</risdate><volume>117</volume><issue>4</issue><spage>779</spage><epage>795</epage><pages>779-795</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>12060112</pmid><doi>10.1046/j.1365-2141.2002.03557.x</doi><tpages>17</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 0007-1048
ispartof British journal of haematology, 2002-06, Vol.117 (4), p.779-795
issn 0007-1048
1365-2141
language eng
recordid cdi_proquest_miscellaneous_71803677
source Wiley Free Content; MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
subjects Animals
Base Sequence
Biological and medical sciences
Bone Marrow Transplantation
bone marrow trans‐plantation
Bullous diseases of the skin
congenital erythropoietic porphyria
Dermatology
Errors of metabolism
gene therapy
Genetic Therapy
Hematopoietic Stem Cell Transplantation
Heme - biosynthesis
Humans
Infant, Newborn
Medical sciences
Metabolic diseases
Mice
Mice, Knockout
Miscellaneous hereditary metabolic disorders
Molecular Sequence Data
Mutation
porphyria
Porphyria, Erythropoietic - etiology
Porphyria, Erythropoietic - genetics
Porphyria, Erythropoietic - therapy
Research Design
uroporphyrinogen III synthase
Uroporphyrinogen III Synthetase - genetics
title Congenital erythropoietic porphyria: advances in pathogenesis and treatment
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-20T20%3A42%3A36IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Congenital%20erythropoietic%20porphyria:%20advances%20in%20pathogenesis%20and%20treatment&rft.jtitle=British%20journal%20of%20haematology&rft.au=Dsnick,%20Robert%20J.&rft.date=2002-06&rft.volume=117&rft.issue=4&rft.spage=779&rft.epage=795&rft.pages=779-795&rft.issn=0007-1048&rft.eissn=1365-2141&rft.coden=BJHEAL&rft_id=info:doi/10.1046/j.1365-2141.2002.03557.x&rft_dat=%3Cproquest_cross%3E71803677%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=71803677&rft_id=info:pmid/12060112&rfr_iscdi=true