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Items: 1 to 20 of 120

1.

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV.

Br J Dermatol. 2012 Oct;167(4):901-13. doi: 10.1111/j.1365-2133.2012.11160.x. Epub 2012 Sep 18.

PMID:
22816431
2.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

Katugampola RP, Anstey AV, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Badminton MN.

Br J Dermatol. 2012 Oct;167(4):888-900. doi: 10.1111/j.1365-2133.2012.11154.x. Epub 2012 Sep 18.

PMID:
22804244
3.

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H.

Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7.

4.

Advances in understanding the pathogenesis of congenital erythropoietic porphyria.

Di Pierro E, Brancaleoni V, Granata F.

Br J Haematol. 2016 May;173(3):365-79. doi: 10.1111/bjh.13978. Epub 2016 Mar 11. Review.

PMID:
26969896
5.

Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.

Moghbeli M, Maleknejad M, Arabi A, Abbaszadegan MR.

Mol Biol Rep. 2012 Jun;39(6):6731-5. doi: 10.1007/s11033-012-1497-z. Epub 2012 Feb 18.

PMID:
22350154
6.

Molecular genetics of congenital erythropoietic porphyria.

Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH.

Semin Liver Dis. 1998;18(1):77-84. Review.

PMID:
9516681
7.

Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.

To-Figueras J, Badenas C, Mascaró JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C.

Blood Cells Mol Dis. 2007 May-Jun;38(3):242-6. Epub 2007 Jan 31.

PMID:
17270473
8.
9.

A molecular study of congenital erythropoietic porphyria in cattle.

Agerholm JS, Thulstrup PW, Bjerrum MJ, Bendixen C, Jørgensen CB, Fredholm M.

Anim Genet. 2012 Apr;43(2):210-5. doi: 10.1111/j.1365-2052.2011.02228.x. Epub 2011 Jul 21.

PMID:
22404357
10.

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.

Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):53-60. Review.

PMID:
19268002
11.

[Congenital erythropoietic porphyria].

Tanigawa K, Takamura N, Yamashita S.

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

PMID:
7616657
12.

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.

Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW.

Arch Dermatol. 2005 Dec;141(12):1575-9.

PMID:
16365260
13.

Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.

Blouin JM, Duchartre Y, Costet P, Lalanne M, Ged C, Lain A, Millet O, de Verneuil H, Richard E.

Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18238-43. doi: 10.1073/pnas.1314177110. Epub 2013 Oct 21.

14.
15.

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.

Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ.

Br J Haematol. 2002 Jun;117(4):980-7.

PMID:
12060141
16.

Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.

Takamura N, Hombrados I, Tanigawa K, Namba H, Nagayama Y, de Verneuil H, Yamashita S.

Am J Med Genet. 1997 Jun 13;70(3):299-302.

PMID:
9188670
17.

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.

Martinez Peinado C, Díaz de Heredia C, To-Figueras J, Arias-Santiago S, Nogueras P, Elorza I, Olivé T, Bádenas C, Moreno MJ, Tercedor J, Herrero C.

Pediatr Dermatol. 2013 Jul-Aug;30(4):484-9. doi: 10.1111/pde.12117. Epub 2013 Apr 5.

PMID:
23557135
18.

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).

Dupuis-Girod S, Akkari V, Ged C, Galambrun C, Kebaïli K, Deybach JC, Claudy A, Geburher L, Philippe N, de Verneuil H, Bertrand Y.

Eur J Pediatr. 2005 Feb;164(2):104-7. Epub 2004 Nov 20.

PMID:
15703981
19.

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Frank J, Wang X, Lam HM, Aita VM, Jugert FK, Goerz G, Merk HF, Poh-Fitzpatrick MB, Christiano AM.

Ann Hum Genet. 1998 May;62(Pt 3):225-30.

20.

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.

Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, Yetgin S, Ersoy F, Aizencang G, Astrin KH, Desnick RJ.

Blood. 1998 Dec 1;92(11):4053-8.

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