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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 22090724)

  • 1. 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]  

  • 2. 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]  

  • 3. Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
    Aguilera P; Badenas C; Whatley SD; To-Figueras J
    Br J Dermatol; 2016 Dec; 175(6):1346-1350. PubMed ID: 27086902
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital erythropoietic porphyria: Recent advances.
    Erwin AL; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):288-297. PubMed ID: 30685241
    [TBL] [Abstract][Full Text] [Related]  

  • 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 with Undescended Testis.
    Arora S; Harith AK; Sodhi N
    Indian J Dermatol; 2016; 61(4):467. PubMed ID: 27512208
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
    Dupuis-Girod S; Akkari V; Ged C; Galambrun C; Kebaïli K; Deybach JC; Claudy A; Geburher L; Philippe N; de Verneuil H; Bertrand Y
    Eur J Pediatr; 2005 Feb; 164(2):104-7. PubMed ID: 15703981
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of novel
    Blouin JM; Ged C; Bernardo-Seisdedos G; Cabantous T; Pinson B; Poli A; Puy H; Millet O; Gouya L; Morice-Picard F; Richard E
    Mol Genet Metab Rep; 2021 Jun; 27():100722. PubMed ID: 33659185
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
    Martinez Peinado C; Díaz de Heredia C; To-Figueras J; Arias-Santiago S; Nogueras P; Elorza I; Olivé T; Bádenas C; Moreno MJ; Tercedor J; Herrero C
    Pediatr Dermatol; 2013; 30(4):484-9. PubMed ID: 23557135
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
    Blouin JM; Ged C; Lalanne M; Lamrissi-Garcia I; Morice-Picard F; Costet P; Daher R; Moreau-Gaudry F; Bedel A; Puy H; Gouya L; Karim Z; Richard E
    Blood; 2020 Nov; 136(21):2457-2468. PubMed ID: 32678895
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Molecular genetics of congenital erythropoietic porphyria.
    Desnick RJ; Glass IA; Xu W; Solis C; Astrin KH
    Semin Liver Dis; 1998; 18(1):77-84. PubMed ID: 9516681
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
    Di Pierro E; Brancaleoni V; Granata F
    Br J Haematol; 2016 May; 173(3):365-79. PubMed ID: 26969896
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital erythropoietic porphyria: a case report.
    Chiewchanvit S; Mahanupab P; Vanittanakom P
    J Med Assoc Thai; 1998 Dec; 81(12):1023-7. PubMed ID: 9916395
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
    Blouin JM; Bernardo-Seisdedos G; Sasso E; Esteve J; Ged C; Lalanne M; Sanz-Parra A; Urquiza P; de Verneuil H; Millet O; Richard E
    Hum Mol Genet; 2017 Apr; 26(8):1565-1576. PubMed ID: 28334762
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
    Tezcan I; Xu W; Gurgey A; Tuncer M; Cetin M; Oner C; Yetgin S; Ersoy F; Aizencang G; Astrin KH; Desnick RJ
    Blood; 1998 Dec; 92(11):4053-8. PubMed ID: 9834209
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Erythrodontia in congenital erythropoietic porphyria.
    Bhavasar R; Santoshkumar G; Prakash BR
    J Oral Maxillofac Pathol; 2011 Jan; 15(1):69-73. PubMed ID: 21731282
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
    Bishop DF; Johansson A; Phelps R; Shady AA; Ramirez MC; Yasuda M; Caro A; Desnick RJ
    Am J Hum Genet; 2006 Apr; 78(4):645-58. PubMed ID: 16532394
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.