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Quoted phrase not found in phrase index: "X-linked erythropoietic protoporphyria"
Page 1
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 …
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 …
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 …
Role of genetic testing in the management of patients with inherited porphyria and their families.
Whatley SD, Badminton MN. Whatley SD, et al. Ann Clin Biochem. 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. Ann Clin Biochem. 2013. PMID: 23605133 Review.
At present the additional genetic factors that influence penetrance are not known, and all patients are treated as equally at risk. Genetic testing in the erythropoietic porphyrias (erythropoietic protoporphyria, congenital erythropoietic porphyria and …
At present the additional genetic factors that influence penetrance are not known, and all patients are treated as equally at risk. Genetic …
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Whatley SD, et al. Br J Dermatol. 2010 Mar;162(3):642-6. doi: 10.1111/j.1365-2133.2010.09631.x. Epub 2010 Jan 22. Br J Dermatol. 2010. PMID: 20105171
BACKGROUND: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene. ...Most (169; 94%) had a FECH mutation on one allele and were classifie …
BACKGROUND: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, …
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H. To-Figueras J, et al. Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7. Blood. 2011. PMID: 21653323 Free article.
Clinical features of CEP include dermatologic and hematologic abnormalities of variable severity. The discovery of a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP), which results from increased activity of 5-aminolevulinate synthase …
Clinical features of CEP include dermatologic and hematologic abnormalities of variable severity. The discovery of a new type of erythroid p …