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Items: 1 to 20 of 176

1.

Porphyria in Switzerland, 15 years experience.

Schneider-Yin X, Harms J, Minder EI.

Swiss Med Wkly. 2009 Apr 4;139(13-14):198-206. doi: smw-12496.

2.

Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.

Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli MG, Biolcati G, Rocchi E, Cappellini MD.

Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):867-76.

PMID:
12699245
3.

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
4.

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
5.

The porphyrias: pathophysiology.

Pietrangelo A.

Intern Emerg Med. 2010 Oct;5 Suppl 1:S65-71. doi: 10.1007/s11739-010-0452-z. Retraction in: Intern Emerg Med. 2011 Jun;6(3):287.

PMID:
20865477
6.

Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.

Poblete-Gutiérrez P, Wiederholt T, Martinez-Mir A, Merk HF, Connor JM, Christiano AM, Frank J.

Physiol Res. 2006;55 Suppl 2:S137-44.

7.

[Porphyrias].

Sakakihara Y.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):424-30. Review. Japanese. No abstract available.

PMID:
11031987
8.

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC.

Hum Genet. 2004 Feb;114(3):256-62. Epub 2003 Dec 11.

PMID:
14669009
9.

[Congenital erythropoietic porphyria].

Tanigawa K, Takamura N, Yamashita S.

Nihon Rinsho. 1995 Jun;53(6):1422-6. Review. Japanese.

PMID:
7616657
10.

The enzymatic defects in porphyria cutanea tarda and variegate porphyria.

Kushner JP.

Acta Derm Venereol Suppl (Stockh). 1982;100:51-6.

PMID:
6962633
11.

Fifty years of porphyria at the University of Cape Town.

Meissner PN, Corrigall AV, Hift RJ.

S Afr Med J. 2012 Mar 2;102(6):422-6.

PMID:
22668925
12.

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.

13.

Molecular mechanisms of dominant expression in porphyria.

Badminton MN, Elder GH.

J Inherit Metab Dis. 2005;28(3):277-86. Review.

PMID:
15868463
14.

Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.

Wiederholt T, Poblete-Gutiérrez P, Gardlo K, Goerz G, Bolsen K, Merk HF, Frank J.

Physiol Res. 2006;55 Suppl 2:S85-92.

15.

Porphyrias in Norway.

Mykletun M, Aarsand AK, Støle E, Villanger JH, Tollånes MC, Baravelli C, Sandberg S.

Tidsskr Nor Laegeforen. 2014 Apr 29;134(8):831-6. doi: 10.4045/tidsskr.13.0649. eCollection 2014 Apr 29. English, Norwegian.

16.

Erythropoietic and hepatic porphyrias.

Gross U, Hoffmann GF, Doss MO.

J Inherit Metab Dis. 2000 Nov;23(7):641-61. Review.

PMID:
11117426
17.

A review of the enzymic errors in the various porphyrias.

Rimington C.

Scand J Clin Lab Invest. 1985 Jun;45(4):291-301. Review. No abstract available.

PMID:
3892647
18.

Review: molecular pathogenesis of hepatic acute porphyrias.

Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y.

J Gastroenterol Hepatol. 1996 Nov;11(11):1046-52. Review.

PMID:
8985829
19.

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
20.

[Progress in dermatology: new biochemical aspects].

Goerz G, Merk H.

Fortschr Med. 1982 Aug 26;100(31-32):1467-71. German.

PMID:
6290359
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