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 *

173 related articles for article (PubMed ID: 9799113)

  • 41. Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
    Wiederholt T; Poblete-Gutiérrez P; Gardlo K; Goerz G; Bolsen K; Merk HF; Frank J
    Physiol Res; 2006; 55 Suppl 2():S85-92. PubMed ID: 17298225
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
    Takamura N; Hombrados I; Tanigawa K; Namba H; Nagayama Y; de Verneuil H; Yamashita S
    Am J Med Genet; 1997 Jun; 70(3):299-302. PubMed ID: 9188670
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
    Xu W; Warner CA; Desnick RJ
    J Clin Invest; 1995 Feb; 95(2):905-12. PubMed ID: 7860775
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.
    Xu W; Kozak CA; Desnick RJ
    Genomics; 1995 Apr; 26(3):556-62. PubMed ID: 7607680
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
    Phillips JD; Steensma DP; Pulsipher MA; Spangrude GJ; Kushner JP
    Blood; 2007 Mar; 109(6):2618-21. PubMed ID: 17148589
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer.
    Moreau-Gaudry F; Ged C; Barbot C; Mazurier F; Boiron JM; Bensidhoum M; Reiffers J; de Verneuil H
    Hum Gene Ther; 1995 Jan; 6(1):13-20. PubMed ID: 7703283
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
    Bishop DF; Clavero S; Mohandas N; Desnick RJ
    Mol Med; 2011; 17(7-8):748-56. PubMed ID: 21365124
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. 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]  

  • 51. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
    Anderson PM; Reddy RM; Anderson KE; Desnick RJ
    J Clin Invest; 1981 Jul; 68(1):1-12. PubMed ID: 7251856
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B-cell lines.
    Moreau-Gaudry F; Mazurier F; Bensidhoum M; Ged C; de Verneuil H
    Blood; 1995 Mar; 85(6):1449-53. PubMed ID: 7888667
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Congenital erythropoietic porphyria.
    Fritsch C; Bolsen K; Ruzicka T; Goerz G
    J Am Acad Dermatol; 1997 Apr; 36(4):594-610. PubMed ID: 9092747
    [TBL] [Abstract][Full Text] [Related]  

  • 54. [Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure].
    de Verneuil H; Moreau-Gaudry F; Ged C; Bensidhoum M; Hombrados I; Tricoire J; Rolland M
    Arch Pediatr; 1995 Aug; 2(8):755-61. PubMed ID: 7550841
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. 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]  

  • 57. 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]  

  • 58. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
    Tanigawa K; Bensidhoum M; Takamura N; Namba H; Yamashita S; de Verneuil H; Ged C
    Hum Genet; 1996 May; 97(5):557-60. PubMed ID: 8655129
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.
    McColl KE; Moore MR; Thompson GG; Goldberg A
    J Med Genet; 1982 Aug; 19(4):271-6. PubMed ID: 7120315
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Congenital erythropoietic porphyria].
    Tanigawa K; Takamura N; Yamashita S
    Nihon Rinsho; 1995 Jun; 53(6):1422-6. PubMed ID: 7616657
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.