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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. 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]
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. 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]
6. 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]
7. Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients. Farrag MS; Mikula I; Richard E; Saudek V; De Verneuil H; Martásek P Folia Biol (Praha); 2015; 61(6):219-26. PubMed ID: 26789143 [TBL] [Abstract][Full Text] [Related]
8. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. To-Figueras J; Phillips JD; Gonzalez-López JM; Badenas C; Madrigal I; González-Romarís EM; Ramos C; Aguirre JM; Herrero C Br J Dermatol; 2011 Sep; 165(3):499-505. PubMed ID: 21668429 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. de Verneuil H; Bourgeois F; de Rooij F; Siersema PD; Wilson JH; Grandchamp B; Nordmann Y Hum Genet; 1992 Jul; 89(5):548-52. PubMed ID: 1634232 [TBL] [Abstract][Full Text] [Related]
11. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). Cappellini MD; Martinez di Montemuros F; Tavazzi D; Fargion S; Pizzuti A; Comino A; Cainelli T; Fiorelli G Hum Mutat; 2001 Apr; 17(4):350. PubMed ID: 11295834 [TBL] [Abstract][Full Text] [Related]
12. Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. McManus JF; Begley CG; Sassa S; Ratnaike S Hum Mutat; 1999; 13(5):412. PubMed ID: 10338097 [TBL] [Abstract][Full Text] [Related]
13. Uroporphyrinogen decarboxylase. Elder GH; Roberts AG J Bioenerg Biomembr; 1995 Apr; 27(2):207-14. PubMed ID: 7592567 [TBL] [Abstract][Full Text] [Related]
14. A zebrafish model for hepatoerythropoietic porphyria. Wang H; Long Q; Marty SD; Sassa S; Lin S Nat Genet; 1998 Nov; 20(3):239-43. PubMed ID: 9806541 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria. Nezamzadeh R; Seubert A; Pohlenz J; Brenig B Anim Genet; 2005 Aug; 36(4):297-302. PubMed ID: 16026339 [TBL] [Abstract][Full Text] [Related]
17. 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]
19. 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]
20. Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene. Darwich E; To-Figueras J; Badenas C; Herrero C Arch Dermatol; 2010 Nov; 146(11):1313-4. PubMed ID: 21079081 [No Abstract] [Full Text] [Related] [Next] [New Search]