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67. Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation. Robert-Richard E; Lalanne M; Lamrissi-Garcia I; Guyonnet-Duperat V; Richard E; Pitard V; Mazurier F; Moreau-Gaudry F; Ged C; de Verneuil H J Gene Med; 2010 Aug; 12(8):637-46. PubMed ID: 20586119 [TBL] [Abstract][Full Text] [Related]
68. [Congenital erythropoietic porphyria: case report and management recommendations]. Salomone B C; Ogueta C I; Reyes V C; Durán S G; Aguirre N; Wietstruck A Arch Argent Pediatr; 2018 Apr; 116(2):e300-e302. PubMed ID: 29557620 [TBL] [Abstract][Full Text] [Related]
69. Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria. Baran M; Eliaçık K; Kurt I; Kanık A; Zengin N; Bakiler AR Turk J Pediatr; 2013; 55(2):218-21. PubMed ID: 24192686 [TBL] [Abstract][Full Text] [Related]
70. 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]
71. Hematologic aspects of the porphyrias. Sassa S Int J Hematol; 2000 Jan; 71(1):1-17. PubMed ID: 10729988 [TBL] [Abstract][Full Text] [Related]
72. Fluorescence-based selection of retrovirally transduced cells in congenital erythropoietic porphyria: direct selection based on the expression of the therapeutic gene. Fontanellas A; Mazurier F; Belloc F; Taine L; Dumain P; Morel C; Ged C; de Verneuil H; Moreau-Gaudry F J Gene Med; 1999; 1(5):322-30. PubMed ID: 10738549 [TBL] [Abstract][Full Text] [Related]
73. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria. Mazurier F; Moreau-Gaudry F; Salesse S; Barbot C; Ged C; Reiffers J; de Verneuil H J Inherit Metab Dis; 1997 Jun; 20(2):247-57. PubMed ID: 9211197 [TBL] [Abstract][Full Text] [Related]
74. The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay. Bottomley SS; Bonkowsky HL; Kreimer-Birnbaum M Am J Clin Pathol; 1981 Aug; 76(2):133-9. PubMed ID: 7270494 [TBL] [Abstract][Full Text] [Related]
75. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Aizencang G; Solis C; Bishop DF; Warner C; Desnick RJ Genomics; 2000 Dec; 70(2):223-31. PubMed ID: 11112350 [TBL] [Abstract][Full Text] [Related]
76. A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease. Sassa S; Granick S; Bickers DR; Bradlow HL; Kappas A Proc Natl Acad Sci U S A; 1974 Mar; 71(3):732-6. PubMed ID: 4522787 [TBL] [Abstract][Full Text] [Related]
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78. 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]
79. Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells. Géronimi F; Richard E; Lamrissi-Garcia I; Lalanne M; Ged C; Redonnet-Vernhet I; Moreau-Gaudry F; de Verneuil H J Mol Med (Berl); 2003 May; 81(5):310-20. PubMed ID: 12721665 [TBL] [Abstract][Full Text] [Related]
80. 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] [Previous] [Next] [New Search]