{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:15:03Z","timestamp":1753877703047,"version":"3.41.2"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Porphyrias are a group of diseases characterized by a deficiency of enzymes in the haem biosynthetic pathway. Congenital Erythropoietic porphyria is a rare autosomal-recessive disorder lacking uroporphyrinogen III synthase. This inherited deficiency results in accumulating uroporphyrinogen I and coproporphyrinogen I in the bone marrow, skin, bones, and other tissues, ultimately excreted via urine and faeces. Clinical manifestations include severe photosensitivity on open body parts with blisters, scarring, hypertrichosis, and mutilations. We describe the first case of CEP in Armenia, with a diagnosis performed in Centre Francais Des (LBMR) Porphyries (France, Paris). It concerns a 22-year-old Armenian man suffering from photosensitivity, excessive hair growth, mutilation, and pink urine discolouration. The five years of follow-up have revealed worsening symptomatology despite preventative measures and demonstrate that standard recommendations did not alleviate the patient\u2019s deteriorating conditions. A cure with an allogeneic haematopoietic stem cell transplant is under strong consideration.<\/jats:p>","DOI":"10.1093\/omcr\/omad151","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T08:02:46Z","timestamp":1706515366000},"source":"Crossref","is-referenced-by-count":0,"title":["Congenital erythropoietic porphyria five years observation with standard treatment: a case report"],"prefix":"10.1093","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7615-1707","authenticated-orcid":false,"given":"Marine","family":"Kamalyan","sequence":"first","affiliation":[{"name":"Yerevan State Medical University Department of Hematology, , Yerevan, Armenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1239-7383","authenticated-orcid":false,"given":"Mohammadmahdi","family":"Mohammadi","sequence":"additional","affiliation":[{"name":"Yerevan State Medical University Department of Hematology, , Yerevan, Armenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,1,27]]},"reference":[{"key":"2024012908023682700_ref1","doi-asserted-by":"crossref","first-page":"2618","DOI":"10.1182\/blood-2006-06-022848","article-title":"Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria","volume":"109","author":"Phillips","year":"2007","journal-title":"Blood"},{"key":"2024012908023682700_ref2","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/bjh.13978","article-title":"Advances in understanding the pathogenesis of congenital erythropoietic porphyria","volume":"173","author":"Di Pierro","year":"2016","journal-title":"Br J Haematol"},{"key":"2024012908023682700_ref3","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.jcmgh.2019.06.006","article-title":"Porphyrin-induced protein oxidation and aggregation as a mechanism of porphyria-associated cell injury","volume":"8","author":"Maitra","year":"2019","journal-title":"Cell Mol Gastroenterol Hepatol"},{"key":"2024012908023682700_ref4","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1001\/archdermatol.2009.161","article-title":"Adult-onset erythropoietic porphyria in the setting of MDS","volume":"145","author":"Cernik","year":"2009","journal-title":"Arch Dermatol"},{"key":"2024012908023682700_ref5","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ymgme.2018.12.008","article-title":"Congenital erythropoietic porphyria: recent advances","volume":"128","author":"Erwin","year":"2019","journal-title":"Mol Genet Metab"},{"key":"2024012908023682700_ref6","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1111\/bjd.14675","article-title":"Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation","volume":"175","author":"Aguilera","year":"2016","journal-title":"Br J Dermatol"},{"key":"2024012908023682700_ref7","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1056\/NEJM198703123161101","article-title":"Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage","volume":"316","author":"Toback","year":"1987","journal-title":"N Engl J Med"},{"key":"2024012908023682700_ref8","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1093\/ced\/llad219","article-title":"Twelve-year follow-up of bone marrow transplantation in congenital erythropoietic porphyria: lessons learned from a challenging case","volume":"48","author":"D\u00edaz-Calvillo","year":"2023","journal-title":"Clin Exp Dermatol"},{"key":"2024012908023682700_ref9","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ajhg.2007.09.007","article-title":"Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells","volume":"82","author":"Robert-Richard","year":"2008","journal-title":"Am J Hum Genet"},{"key":"2024012908023682700_ref10","doi-asserted-by":"crossref","first-page":"5805","DOI":"10.1093\/hmg\/ddu298","article-title":"Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria","volume":"23","author":"Ben Bdira","year":"2014","journal-title":"Hum Mol Genet"}],"container-title":["Oxford Medical Case 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