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Quoted phrase not found in phrase index: "Protoporphyria, erythropoietic, 2"
Page 1
Erythropoietic protoporphyria.
Cox TM. Cox TM. J Inherit Metab Dis. 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. J Inherit Metab Dis. 1997. PMID: 9211198 Review.
Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inh …
Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overp …
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. ...Sequential hepatic and bone marrow tra …
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of pr …
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. ...
BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by …
Diagnostic Delay in Erythropoietic Protoporphyria.
Lala SM, Naik H, Balwani M. Lala SM, et al. J Pediatr. 2018 Nov;202:320-323.e2. doi: 10.1016/j.jpeds.2018.06.001. Epub 2018 Jul 2. J Pediatr. 2018. PMID: 30041937 Free PMC article. Review.
Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. ...We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of …
Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. ...We describe th …
Liver involvement in patients with erythropoietic protoporphyria.
Wensink D, Coenen S, Wilson JHP, Wagenmakers MAEM, Langendonk JG. Wensink D, et al. Dig Liver Dis. 2022 Apr;54(4):515-520. doi: 10.1016/j.dld.2021.08.007. Epub 2021 Aug 30. Dig Liver Dis. 2022. PMID: 34475006 Free article.
BACKGROUND: In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. ...Liver steatosis was detected in 29.0%, and significant …
BACKGROUND: In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition o …
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M, Chen B, Desnick RJ. Yasuda M, et al. Mol Genet Metab. 2019 Nov;128(3):320-331. doi: 10.1016/j.ymgme.2018.11.012. Epub 2018 Nov 30. Mol Genet Metab. 2019. PMID: 30594473 Free PMC article. Review.
The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepat …
The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (A …
Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Literature Review.
Ogasawara H, Tokodai K, Nakanishi W, Fujio A, Kashiwadate T, Shono Y, Ohta M, Ishikawa Y, Miyagi S, Fujishima F, Unno M, Kamei T. Ogasawara H, et al. Tohoku J Exp Med. 2023 Oct 7;261(2):117-122. doi: 10.1620/tjem.2023.J061. Epub 2023 Jul 27. Tohoku J Exp Med. 2023. PMID: 37495523 Free article. Review.
Erythropoietic protoporphyria (EPP) is a very rare disease with an estimated prevalence of 1 in 200,000 individuals. Decreased ferrochelatase activity causes the accumulation of protoporphyrin in the body, and light exposure results in the generation of active oxyge …
Erythropoietic protoporphyria (EPP) is a very rare disease with an estimated prevalence of 1 in 200,000 individuals. Decreased …
New developments in erythropoietic porphyrias.
Darwich E, Herrero C. Darwich E, et al. Actas Dermosifiliogr. 2013 Apr;104(3):212-9. doi: 10.1016/j.ad.2011.12.021. Epub 2012 Jul 4. Actas Dermosifiliogr. 2013. PMID: 22766189 Free article. English, Spanish.
In recent years, important advances have been made in our understanding of the genetics of porphyrias, particularly with respect to erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP), 2 forms of erythropoietic porphyria n …
In recent years, important advances have been made in our understanding of the genetics of porphyrias, particularly with respect to eryth …
Erythropoietic protoporphyria. Hepatic implications.
Macdonald DM, Nicholson DC. Macdonald DM, et al. Br J Dermatol. 1976 Aug;95(2):157-62. doi: 10.1111/j.1365-2133.1976.tb00819.x. Br J Dermatol. 1976. PMID: 952751
The terminal stages of erythropoietic protoporphyria are recorded. The observations are related to the site of the fundamental lesion and the nature of the biochemical defect. ...Probably the most common familial photosensitizing porphyria is erythropoietic …
The terminal stages of erythropoietic protoporphyria are recorded. The observations are related to the site of the fundamental …
32 results