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Results: 1 to 20 of 244

1.

The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies.

Granata BX, Parera VE, Melito VA, Teijo MJ, Batlle AM, Rossetti MV.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):61-5.

PMID:
19268003
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
10980536
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
7706766
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
8644733
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
15491440
[PubMed - indexed for MEDLINE]
6.

Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda.

Castaño Suárez E, Zamarro Sanz O, Guerra Tapia A, Enríquez de Salamanca R.

Dermatology. 1996;193(4):332-5. Review.

PMID:
8993961
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
12071824
[PubMed - indexed for MEDLINE]
8.

Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP.

Transl Res. 2007 Feb;149(2):85-91.

PMID:
17240319
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
9792863
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

[Porphyria cutanea tarda and hepatoerythropoietic porphyria].

Nonaka S, Takamiyagi A.

Nihon Rinsho. 1995 Jun;53(6):1427-32. Review. Japanese.

PMID:
7616658
[PubMed - indexed for MEDLINE]
11.

Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

Meguro K, Fujita H, Ishida N, Akagi R, Kurihara T, Galbraith RA, Kappas A, Zabriskie JB, Toback AC, Harber LC, et al.

J Invest Dermatol. 1994 May;102(5):681-5.

PMID:
8176248
[PubMed - indexed for MEDLINE]
12.

Identification of a new mutation responsible for hepatoerythropoietic porphyria.

Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo PH.

Eur J Clin Invest. 1991 Apr;21(2):225-9.

PMID:
1905636
[PubMed - indexed for MEDLINE]
13.

Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV.

Arch Dermatol. 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89.

PMID:
20479301
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
10477430
[PubMed - indexed for MEDLINE]
15.

[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria].

de Verneuil H, Moreau-Gaudry F, Laradi S, Cruces MJ, de la Torre C, Aris LF.

Arch Fr Pediatr. 1992 Dec;49(10):907-11. French.

PMID:
1363904
[PubMed - indexed for MEDLINE]
16.

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 1;88(9):3589-600.

PMID:
8896428
[PubMed - indexed for MEDLINE]
Free Article
17.

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

de Verneuil H, Beaumont C, Deybach JC, Nordmann Y, Sfar Z, Kastally R.

Am J Hum Genet. 1984 May;36(3):613-22.

PMID:
6375356
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
1634232
[PubMed - indexed for MEDLINE]
19.

A mouse model of familial porphyria cutanea tarda.

Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner JP.

Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):259-64.

PMID:
11134514
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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. doi: 10.1111/j.1365-2133.2011.10453.x. Epub 2011 Aug 18.

PMID:
21668429
[PubMed - indexed for MEDLINE]
Free PMC Article

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