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Items: 1 to 20 of 142

1.

Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.

Reiser M, Eickmann S, Haverkamp T, Finckh U.

Obes Rev. 2010 Apr;11(4):329-31. doi: 10.1111/j.1467-789X.2009.00670.x. Epub 2009 Oct 21.

PMID:
19845869
2.

[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].

Wolff C, Frank J, Poblete-Gutiérrez P.

Rev Invest Clin. 2006 Jul-Aug;58(4):289-95. Spanish.

PMID:
17146940
3.

Hepatocellular carcinoma in variegate porphyria: a serious complication.

Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI, Frank J.

Acta Derm Venereol. 2010 Sep;90(5):512-5. doi: 10.2340/00015555-0870.

4.

Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

Ausenda S, Di Pierro E, Brancaleoni V, Besana V, Cappellini MD.

Hum Genet. 2007 Nov;122(3-4):417. No abstract available.

PMID:
18350656
5.

Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

Ausenda S, Moriondo V, Marchini S, Besana V, Di Pierro E, Brancaleoni V, Ventura P, Rocchi E, Cappellini MD.

Hum Genet. 2009 Apr;125(3):344. No abstract available.

PMID:
19320019
6.

Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.

de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L.

Exp Dermatol. 2005 Jan;14(1):50-5.

PMID:
15660919
7.

Swiss patients with variegate porphyria have unique mutations.

Schneider-Yin X, Minder EI.

Swiss Med Wkly. 2006 Aug 5;136(31-32):515-9.

PMID:
16947091
8.

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.

van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J.

Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x.

PMID:
21910705
9.

Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.

Di Pierro E, Ventura P, Brancaleoni V, Moriondo V, Marchini S, Tavazzi D, Nascimbeni F, Ferrari MC, Rocchi E, Cappellini MD.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):79-88.

PMID:
19656455
10.

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Rossetti MV, Granata BX, Giudice J, Parera VE, Batlle A.

BMC Med Genet. 2008 Jun 20;9:54. doi: 10.1186/1471-2350-9-54.

11.
12.

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J.

J Hepatol. 2015 Mar;62(3):734-8. doi: 10.1016/j.jhep.2014.11.029. Epub 2014 Nov 28.

PMID:
25445397
13.

Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.

Van Tuyll Van Serooskerke AM, Schneider-Yin X, Schimmel RJ, Bladergroen RS, Poblete-Gutiérrez P, Barman J, van Geel M, Frank J, Minder EI.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):96-101.

PMID:
19656457
14.

Variegate porphyria.

Kirsch RE, Meissner PN, Hift RJ.

Semin Liver Dis. 1998;18(1):33-41. Review.

PMID:
9516676
15.

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

Deybach JC, Puy H, Robréau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y.

Hum Mol Genet. 1996 Mar;5(3):407-10.

PMID:
8852667
16.
17.

Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.

D'Amato M, Bonuglia M, Barile S, Griso D, Macri A, Biolcati G.

Hum Mutat. 2003 Apr;21(4):448.

PMID:
12655566
18.

Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.

Weinlich G, Doss MO, Sepp N, Fritsch P.

Acta Derm Venereol. 2001 Oct-Nov;81(5):356-9.

PMID:
11800145
19.

Mitochondrial targeting of human protoporphyrinogen oxidase.

Davids LM, Corrigall AV, Meissner PN.

Cell Biol Int. 2006 May;30(5):416-26. Epub 2006 Mar 6.

PMID:
16621625
20.

Retracing an old journey in variegate porphyria.

Badminton MN.

Br J Dermatol. 2012 Feb;166(2):237. doi: 10.1111/j.1365-2133.2011.10739.x. No abstract available.

PMID:
22268855

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