BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 30514647)

  • 1. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
    Weiss Y; Chen B; Yasuda M; Nazarenko I; Anderson KE; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):363-366. PubMed ID: 30514647
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
    Moran-Jimenez MJ; Ged C; Romana M; Enriquez De Salamanca R; Taïeb A; Topi G; D'Alessandro L; de Verneuil H
    Am J Hum Genet; 1996 Apr; 58(4):712-21. PubMed ID: 8644733
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
    Mendez M; Rossetti MV; De Siervi A; del Carmen Batlle AM; Parera V
    Hum Mutat; 2000 Sep; 16(3):269-70. PubMed ID: 10980536
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
    Roberts AG; Elder GH; De Salamanca RE; Herrero C; Lecha M; Mascaro JM
    J Invest Dermatol; 1995 Apr; 104(4):500-2. PubMed ID: 7706766
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
    Gómez-Abecia S; Morán-Jiménez MJ; Ruiz-Casares E; Henriques-Gil N; García-Pastor I; Garrido-Astray MC; Enríquez de Salamanca R; Méndez M
    Gene; 2013 Jun; 522(1):89-95. PubMed ID: 23545314
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
    Méndez M; Poblete-Gutiérrez P; García-Bravo M; Wiederholt T; Morán-Jiménez MJ; Merk HF; Garrido-Astray MC; Frank J; Fontanellas A; Enríquez de Salamanca R
    Br J Dermatol; 2007 Sep; 157(3):501-7. PubMed ID: 17627795
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
    McManus JF; Begley CG; Sassa S; Ratnaike S
    Blood; 1996 Nov; 88(9):3589-600. PubMed ID: 8896428
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
    Ged C; Ozalla D; Herrero C; Lecha M; Mendez M; de Verneuil H; Mascaro JM
    Arch Dermatol; 2002 Jul; 138(7):957-60. PubMed ID: 12071824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
    Christiansen L; Bygum A; Jensen A; Brandrup F; Thomsen K; Horder M; Petersen NE
    Scand J Clin Lab Invest; 2000 Nov; 60(7):611-5. PubMed ID: 11202053
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
    Mendez M; Sorkin L; Rossetti MV; Astrin KH; del C Batlle AM; Parera VE; Aizencang G; Desnick RJ
    Am J Hum Genet; 1998 Nov; 63(5):1363-75. PubMed ID: 9792863
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
    Camagna A; Del Duca P; Petrinelli P; Borelli LG; Ciancio L; Cipollone L; Misasi G; Manfredi MR; Dionisi S; de Martinis C
    Am J Med Sci; 1998 Jan; 315(1):59-62. PubMed ID: 9427577
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
    Christiansen L; Ged C; Hombrados I; Brons-Poulsen J; Fontanellas A; de Verneuil H; Hørder M; Petersen NE
    Hum Mutat; 1999; 14(3):222-32. PubMed ID: 10477430
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
    Armstrong DK; Sharpe PC; Chambers CR; Whatley SD; Roberts AG; Elder GH
    Br J Dermatol; 2004 Oct; 151(4):920-3. PubMed ID: 15491440
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Porphyria cutanea tarda.
    Elder GH
    Semin Liver Dis; 1998; 18(1):67-75. PubMed ID: 9516680
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Porphyria cutanea tarda--when skin meets liver.
    Frank J; Poblete-Gutiérrez P
    Best Pract Res Clin Gastroenterol; 2010 Oct; 24(5):735-45. PubMed ID: 20955974
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
    Poblete-Gutiérrez P; Mendez M; Wiederholt T; Merk HF; Fontanellas A; Wolff C; Frank J
    Exp Dermatol; 2004 Jun; 13(6):372-9. PubMed ID: 15186324
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
    Méndez M; Rossetti MV; Gómez-Abecia S; Morán-Jiménez MJ; Parera V; Batlle A; Enríquez de Salamanca R
    Mol Genet Metab; 2012 Apr; 105(4):629-33. PubMed ID: 22382040
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
    Aarsand AK; Boman H; Sandberg S
    Clin Chem; 2009 Apr; 55(4):795-803. PubMed ID: 19233912
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.