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.
22. A knock-in mouse model of congenital erythropoietic porphyria. Ged C; Mendez M; Robert E; Lalanne M; Lamrissi-Garcia I; Costet P; Daniel JY; Dubus P; Mazurier F; Moreau-Gaudry F; de Verneuil H Genomics; 2006 Jan; 87(1):84-92. PubMed ID: 16314073 [TBL] [Abstract][Full Text] [Related]
23. Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation. Shirazi N; Chauhan P; Jindal R; Ahmad S J Coll Physicians Surg Pak; 2019 Jun; 29(6):S23-S25. PubMed ID: 31142411 [TBL] [Abstract][Full Text] [Related]
24. 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]
26. Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria. Desjardins MP; Naccache L; Hébert A; Auger I; Teira P; Pelland-Marcotte MC Clin Pediatr (Phila); 2023 Jun; 62(5):399-403. PubMed ID: 36217751 [TBL] [Abstract][Full Text] [Related]
27. Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma. Pannier E; Viot G; Aubry MC; Grange G; Tantau J; Fallet-Bianco C; Muller F; Cabrol D Prenat Diagn; 2003 Jan; 23(1):25-30. PubMed ID: 12533808 [TBL] [Abstract][Full Text] [Related]
28. Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. Fortian A; Castaño D; Gonzalez E; Laín A; Falcon-Perez JM; Millet O Adv Protein Chem Struct Biol; 2011; 83():43-74. PubMed ID: 21570665 [TBL] [Abstract][Full Text] [Related]
29. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Fontanellas A; Bensidhoum M; Enriquez de Salamanca R; Moruno Tirado A; de Verneuil H; Ged C Eur J Hum Genet; 1996; 4(5):274-82. PubMed ID: 8946173 [TBL] [Abstract][Full Text] [Related]
30. Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis. Ged C; Moreau-Gaudry F; Taine L; Hombrados I; Calvas P; Colombies P; De Verneuil H Prenat Diagn; 1996 Jan; 16(1):83-6. PubMed ID: 8821859 [TBL] [Abstract][Full Text] [Related]
32. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Frank J; Wang X; Lam HM; Aita VM; Jugert FK; Goerz G; Merk HF; Poh-Fitzpatrick MB; Christiano AM Ann Hum Genet; 1998 May; 62(Pt 3):225-30. PubMed ID: 9803266 [TBL] [Abstract][Full Text] [Related]
33. Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. Pandey M; Mukherjee SB; Patra B; Kapoor S; Ged C; Aneja S; Seth A J Pediatr Hematol Oncol; 2013 May; 35(4):e167-70. PubMed ID: 23612387 [TBL] [Abstract][Full Text] [Related]
34. An Atypical Case of Congenital Erythropoietic Porphyria. Sudrié-Arnaud B; Legendre M; Snanoudj S; Pelluard F; Bekri S; Tebani A Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828434 [TBL] [Abstract][Full Text] [Related]
35. Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria. To-Figueras J; Badenas C; Mascaró JM; Madrigal I; Merino A; Bastida P; Lecha M; Herrero C Blood Cells Mol Dis; 2007; 38(3):242-6. PubMed ID: 17270473 [TBL] [Abstract][Full Text] [Related]
36. Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Deybach JC; Grandchamp B; Grelier M; Nordmann Y; Boué J; Boué A; de Berrianger P Hum Genet; 1980 Feb; 53(2):217-21. PubMed ID: 7358389 [TBL] [Abstract][Full Text] [Related]
37. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). Deybach JC; de Verneuil H; Boulechfar S; Grandchamp B; Nordmann Y Blood; 1990 May; 75(9):1763-5. PubMed ID: 2331520 [TBL] [Abstract][Full Text] [Related]
38. Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria. Mazurier F; Géronimi F; Lamrissi-Garcia I; Morel C; Richard E; Ged C; Fontanellas A; Moreau-Gaudry F; Morey M; de Verneuil H Mol Ther; 2001 Mar; 3(3):411-7. PubMed ID: 11273784 [TBL] [Abstract][Full Text] [Related]
39. Congenital erythropoietic porphyria with erythrodontia: A case report. Ciftci V; Kılavuz S; Bulut FD; Mungan HN; Bisgin A; Dogan MC Int J Paediatr Dent; 2019 Jul; 29(4):542-548. PubMed ID: 30706587 [TBL] [Abstract][Full Text] [Related]
40. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. Fortian A; Castaño D; Ortega G; Laín A; Pons M; Millet O Biochemistry; 2009 Jan; 48(2):454-61. PubMed ID: 19099412 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]