These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868 [TBL] [Abstract][Full Text] [Related]
6. Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature. Kontos AP; Ozog D; Bichakjian C; Lim HW Br J Dermatol; 2003 Jan; 148(1):160-4. PubMed ID: 12534613 [TBL] [Abstract][Full Text] [Related]
16. Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). Gucev Z; Slavevska N; Tasic V; Laban N; Pop-Jordanova N; Danilovski D; Woolf J; Cole D Indian J Hum Genet; 2011 May; 17(2):104-7. PubMed ID: 22090724 [TBL] [Abstract][Full Text] [Related]
17. Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient. Thien Kim DH; Kawazoe A; Bang PD; Thanh NT; Taketani S Case Rep Dermatol; 2013 Jan; 5(1):105-10. PubMed ID: 23626549 [TBL] [Abstract][Full Text] [Related]
18. Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. Kauppinen R; Glass IA; Aizencang G; Astrin KH; Atweh GF; Desnick RJ Mol Genet Metab; 1998 Sep; 65(1):10-7. PubMed ID: 9787090 [TBL] [Abstract][Full Text] [Related]
19. Ocular complications in 2 cases with porphyria. Altiparmak UE; Oflu Y; Kocaoglu FA; Katircioglu YA; Duman S Cornea; 2008 Oct; 27(9):1093-6. PubMed ID: 18812782 [TBL] [Abstract][Full Text] [Related]