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Biallelic variants in the\n                    <jats:italic>UROS<\/jats:italic>\n                    gene result in decreased UROS enzymatic activity and the accumulation of non\u2010physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non\u2010immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.\n                  <\/jats:p>","DOI":"10.1111\/liv.15958","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T08:04:51Z","timestamp":1715155491000},"page":"1842-1855","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Congenital erythropoietic porphyria"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2644-1213","authenticated-orcid":false,"given":"Jordi","family":"To\u2010Figueras","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Genetics Unit, Hospital Clinic University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika L.","family":"Erwin","sequence":"additional","affiliation":[{"name":"Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Aguilera","sequence":"additional","affiliation":[{"name":"Dermatology Unit, Hospital Clinic University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Millet","sequence":"additional","affiliation":[{"name":"Precision Medicine and Metabolism Laboratory CIC bioGUNE, Basque Research and Technology Alliance (BRTA)  Bilbao Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"e_1_2_14_2_1","unstructured":"SchultzJH.A Case of Pemphigus Leprosus Complicated by Visceral Leprosy. 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