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Results: 1 to 20 of 106

1.

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

Rudd A, Grant J, Varigos G, Morgan V, Winship I.

Australas J Dermatol. 2013 May;54(2):e50-2. doi: 10.1111/j.1440-0960.2011.00875.x. Epub 2012 Mar 21.

PMID:
23582006
[PubMed - indexed for MEDLINE]
2.

[Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria].

Doss MO, Gross U, Puy H, Doss M, Kühnel A, Jacob K, Deybach JC, Nordmann Y.

Med Klin (Munich). 2002 Jan 15;97(1):1-5. German.

PMID:
11831056
[PubMed - indexed for MEDLINE]
3.

Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.

Barbaro M, Kotajärvi M, Harper P, Floderus Y.

Clin Genet. 2012 Mar;81(3):249-56. doi: 10.1111/j.1399-0004.2011.01628.x. Epub 2011 Feb 6.

PMID:
21231929
[PubMed - indexed for MEDLINE]
4.

Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

Gross U, Puy H, Kühnel A, Meissauer U, Deybach JC, Jacob K, Martasek P, Nordmann Y, Doss MO.

Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):49-55. Review.

PMID:
11929047
[PubMed - indexed for MEDLINE]
5.

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.

van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J.

J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7.

PMID:
21734717
[PubMed - indexed for MEDLINE]
Free Article
6.

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

To-Figueras J, Badenas C, Enríquez MT, Segura S, Alvarez C, Milà M, Lecha M, Herrero C.

Mol Genet Metab. 2005 Jun;85(2):160-3. Epub 2005 Feb 25.

PMID:
15896662
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Molecular mechanisms of dominant expression in porphyria.

Badminton MN, Elder GH.

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

PMID:
15868463
[PubMed - indexed for MEDLINE]
9.

Biochemical differentiation of the porphyrias.

Hindmarsh JT, Oliveras L, Greenway DC.

Clin Biochem. 1999 Nov;32(8):609-19.

PMID:
10638943
[PubMed - indexed for MEDLINE]
10.

Association of porphyria cutanea tarda with hereditary hemochromatosis.

Mehrany K, Drage LA, Brandhagen DJ, Pittelkow MR.

J Am Acad Dermatol. 2004 Aug;51(2):205-11.

PMID:
15280838
[PubMed - indexed for MEDLINE]
11.

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ.

J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20.

PMID:
21103937
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Novel human pathological mutations. Gene symbol: CPOX. Disease: Coproporphyria.

Ausenda S, Di Pierro E, Brancaleoni V, Tavazzi D, Cappellini MD.

Hum Genet. 2009 Aug;126(2):342. No abstract available.

PMID:
19694028
[PubMed - indexed for MEDLINE]
13.

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.

Horner ME, Alikhan A, Tintle S, Tortorelli S, Davis DM, Hand JL.

Int J Dermatol. 2013 Dec;52(12):1464-80. doi: 10.1111/ijd.12305. Review.

PMID:
24261722
[PubMed - indexed for MEDLINE]
14.

Erythropoietic and hepatic porphyrias.

Gross U, Hoffmann GF, Doss MO.

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

PMID:
11117426
[PubMed - indexed for MEDLINE]
15.

Dual porphyria of coexisting variegata and cutanea tarda.

Sieg I, Bhutani LK, Doss MO.

Eur J Clin Chem Clin Biochem. 1995 Jul;33(7):405-10.

PMID:
7548446
[PubMed - indexed for MEDLINE]
16.

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H.

Hum Mol Genet. 2005 Oct 15;14(20):3089-98. Epub 2005 Sep 13.

PMID:
16159891
[PubMed - indexed for MEDLINE]
Free Article
17.

Gene symbol: CPOX.

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

Hum Genet. 2007 Apr;121(2):296. No abstract available.

PMID:
17598218
[PubMed - indexed for MEDLINE]
18.

[Porphyria cutanea tarda in a dialyzed female patient].

Pérez L, Fernández-Redondo V, Toribio J.

Actas Dermosifiliogr. 2006 Mar;97(2):115-7. Spanish.

PMID:
16595112
[PubMed - indexed for MEDLINE]
19.

A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.

Gross U, Puy H, Meissauer U, Lamoril J, Deybach JC, Doss M, Nordmann Y, Doss MO.

J Inherit Metab Dis. 2002 Aug;25(4):279-86.

PMID:
12227458
[PubMed - indexed for MEDLINE]
20.

Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

Brady JJ, Jackson HA, Roberts AG, Morgan RR, Whatley SD, Rowlands GL, Darby C, Shudell E, Watson R, Paiker J, Worwood MW, Elder GH.

J Invest Dermatol. 2000 Nov;115(5):868-74.

PMID:
11069625
[PubMed - indexed for MEDLINE]
Free Article

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