Congenital erythropoietic porphyria: advances in pathogenesis and treatment
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Veröffentlicht in: | British journal of haematology 2002-06, Vol.117 (4), p.779-795 |
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container_title | British journal of haematology |
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creator | Dsnick, Robert J. Astrin, Kenneth H. |
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doi_str_mv | 10.1046/j.1365-2141.2002.03557.x |
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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> |
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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 |
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