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Quoted phrase not found in phrase index: "X-linked erythropoietic protoporphyria"
Page 1
Heme biosynthesis and the porphyrias.
Phillips JD. Phillips JD. Mol Genet Metab. 2019 Nov;128(3):164-177. doi: 10.1016/j.ymgme.2019.04.008. Epub 2019 Apr 22. Mol Genet Metab. 2019. PMID: 31326287 Free PMC article. Review.
The erythropoietic porphyrias are congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria (EPP). ...Mutations affecting the erythroid form of ALA synthase (ALAS2) are most commonly associated with X-linked sideroblast …
The erythropoietic porphyrias are congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria ( …
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE. Ramanujam VS, et al. Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. Curr Protoc Hum Genet. 2015. PMID: 26132003 Free PMC article. Review.
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoietic po …
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), varieg …
Dersimelagon in Erythropoietic Protoporphyrias.
Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators. Balwani M, et al. N Engl J Med. 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. N Engl J Med. 2023. PMID: 37043653 Clinical Trial.
BACKGROUND: Erythropoietic protoporphyria and X-linked protoporphyria are inborn errors of heme biosynthesis that cause elevated circulating levels of metal-free protoporphyrin and phototoxicity. ...Quality of life and safety were also assessed. …
BACKGROUND: Erythropoietic protoporphyria and X-linked protoporphyria are inborn errors of heme biosynthe …
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC. Lecha M, et al. Orphanet J Rare Dis. 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. Orphanet J Rare Dis. 2009. PMID: 19744342 Free PMC article. Review.
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. ...In about 2% of patients, overt disease …
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of pr …
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M. Balwani M. Mol Genet Metab. 2019 Nov;128(3):298-303. doi: 10.1016/j.ymgme.2019.01.020. Epub 2019 Jan 24. Mol Genet Metab. 2019. PMID: 30704898 Free PMC article. Review.
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. ...
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses r …
Liver transplantation in the management of porphyria.
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Singal AK, et al. Hepatology. 2014 Sep;60(3):1082-9. doi: 10.1002/hep.27086. Epub 2014 Jul 29. Hepatology. 2014. PMID: 24700519 Free PMC article. Review.
Liver transplantation (LT) may be needed for recurrent and/or life-threatening acute attack in acute intermittent porphyria or acute liver failure or end-stage chronic liver disease in erythropoietic protoporphyria. LT in acute intermittent porphyria is curative. …
Liver transplantation (LT) may be needed for recurrent and/or life-threatening acute attack in acute intermittent porphyria or acute liver f …
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P, Brancaleoni V, Di Pierro E, Graziadei G, Macrì A, Carmine Guida C, Nicolli A, Rossi MT, Granata F, Fiorentino V, Fustinoni S, Sala R, Pinton PC, Trevisan A, Marchini S, Cuoghi C, Marcacci M, Corradini E, Sorge F, Aurizi C, Savino MG, Cappellini MD, Pietrangelo A. Ventura P, et al. Eur J Dermatol. 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. Eur J Dermatol. 2020. PMID: 33021473 Free article.
BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. ...Gene mutations were assessed in 173 (96.6%) patients; most (164; 91.3%) were FEC …
BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by …
Porphyrias: A 2015 update.
Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Karim Z, et al. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009. Epub 2015 Jul 2. Clin Res Hepatol Gastroenterol. 2015. PMID: 26142871 Review.
Each porphyria is caused by abnormal function at a separate enzymatic step resulting in a specific accumulation of heme precursors. Porphyrias are classified as hepatic or erythropoietic, based on the organ system in which heme precursors (delta-aminolevulinic acid [ALA], …
Each porphyria is caused by abnormal function at a separate enzymatic step resulting in a specific accumulation of heme precursors. Porphyri …
Experimental and approved treatments for skin photosensitivity in individuals with erythropoietic protoporphyria or X-linked protoporphyria: A systematic review.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC. Heerfordt IM, et al. Biomed Pharmacother. 2023 Feb;158:114132. doi: 10.1016/j.biopha.2022.114132. Epub 2022 Dec 14. Biomed Pharmacother. 2023. PMID: 36525819 Free article. Review.
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by skin photosensitivity caused by accumulation of protoporphyrin IX. ...
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by skin photosens …
The molecular genetics of erythropoietic protoporphyria.
Elder GH, Gouya L, Whatley SD, Puy H, Badminton MN, Deybach JC. Elder GH, et al. Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):118-26. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19656460 Review.
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients, liver disease. More than 95% of unrelated patients have ferrochelata …
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin …
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