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 *

217 related articles for article (PubMed ID: 19099412)

  • 41. Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
    Glomglao W; Treesucon A; Roothumnong E; Thongnoppakhun W; Siraprapapat P; Suwanthol L; Sanpakit K; Tanphaichitr VS
    Int J Lab Hematol; 2015 Apr; 37(2):e44-7. PubMed ID: 25092523
    [No Abstract]   [Full Text] [Related]  

  • 42. Congenital erythropoietic porphyria, description of a new mutation in two brothers.
    Moruno Tirado A; Herrera Saval A; Martinez Montero E; Hernandez Hazanas F; Ceballos Aragon J; Ged C; de Verneuil H
    Eur J Pediatr; 1997 Oct; 156(10):817-8. PubMed ID: 9365077
    [No Abstract]   [Full Text] [Related]  

  • 43. Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
    Cunha L; Kuti M; Bishop DF; Mezei M; Zeng L; Zhou MM; Desnick RJ
    Proteins; 2008 May; 71(2):855-73. PubMed ID: 18004775
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer.
    Moreau-Gaudry F; Barbot C; Mazurier F; Mahon FX; Reiffers J; Ged C; de Verneuil H
    Hematol Cell Ther; 1996 Apr; 38(2):217-20. PubMed ID: 8932010
    [No Abstract]   [Full Text] [Related]  

  • 45. 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]  

  • 46. 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]  

  • 47. 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]  

  • 48. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
    Ged C; Mégarbané H; Chouery E; Lalanne M; Mégarbané A; de Verneuil H
    J Invest Dermatol; 2004 Sep; 123(3):589-91. PubMed ID: 15304101
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. Role of buried polar residues in helix bundle stability and lipid binding of apolipophorin III: destabilization by threonine 31.
    Weers PM; Abdullahi WE; Cabrera JM; Hsu TC
    Biochemistry; 2005 Jun; 44(24):8810-6. PubMed ID: 15952787
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Congenital erythropoietic porphyria affecting two brothers.
    Herrera Saval A; Moruno Tirado A
    Br J Dermatol; 1999 Sep; 141(3):547-50. PubMed ID: 10583066
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
    Ulbrichova D; Hrdinka M; Saudek V; Martasek P
    FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria.
    Guo S; Wang L; Li X; Nie G; Li M; Han B
    Blood Cells Mol Dis; 2014 Jan; 52(1):57-8. PubMed ID: 23953398
    [No Abstract]   [Full Text] [Related]  

  • 55. Late onset erythropoietic porphyria (Gunther's disease).
    Rao SU; Dar NR; Abbas M; Mumtaz J
    J Coll Physicians Surg Pak; 2011 Sep; 21(9):564-6. PubMed ID: 21914417
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
    Fityan A; Fassihi H; Sarkany R
    Clin Exp Dermatol; 2016 Dec; 41(8):953-954. PubMed ID: 27859603
    [No Abstract]   [Full Text] [Related]  

  • 57. 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]  

  • 58. 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]  

  • 59. Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
    Warner CA; Poh-Fitzpatrick MB; Zaider EF; Tsai SF; Desnick RJ
    Arch Dermatol; 1992 Sep; 128(9):1243-8. PubMed ID: 1519940
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Effects of mutations in apolipoprotein C-1 on the reconstitution and kinetic stability of discoidal lipoproteins.
    Mehta R; Gantz DL; Gursky O
    Biochemistry; 2003 Apr; 42(16):4751-8. PubMed ID: 12705839
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.