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Results: 1 to 20 of 110

1.

A Case of Congenital Erythropoietic Porphyria without Hemolysis.

De AK, Das K, Sil A, Joardar S.

Indian J Dermatol. 2013 Sep;58(5):407. doi: 10.4103/0019-5154.117336.

PMID:
24082206
[PubMed]
Free PMC Article
2.

Erythrodontia in congenital erythropoietic porphyria.

Bhavasar R, Santoshkumar G, Prakash BR.

J Oral Maxillofac Pathol. 2011 Jan;15(1):69-73. doi: 10.4103/0973-029X.80022.

PMID:
21731282
[PubMed]
Free PMC Article
3.

Congenital erythropoietic porphyria: two case reports.

Koley S, Saoji V.

Indian J Dermatol. 2011 Jan;56(1):94-7. doi: 10.4103/0019-5154.77565.

PMID:
21572804
[PubMed]
Free PMC Article
4.

Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease).

Freesemann AG, Bhutani LK, Jacob K, Doss MO.

Arch Dermatol Res. 1997 Apr;289(5):272-6.

PMID:
9164637
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
6.

[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure].

de Verneuil H, Moreau-Gaudry F, Ged C, Bensidhoum M, Hombrados I, Tricoire J, Rolland M.

Arch Pediatr. 1995 Aug;2(8):755-61. French.

PMID:
7550841
[PubMed - indexed for MEDLINE]
7.

Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient.

Thien Kim DH, Kawazoe A, Bang PD, Thanh NT, Taketani S.

Case Rep Dermatol. 2013 Mar 27;5(1):105-10. doi: 10.1159/000350679. Print 2013 Jan.

PMID:
23626549
[PubMed]
Free PMC Article
8.

Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met).

Gucev Z, Slavevska N, Tasic V, Laban N, Pop-Jordanova N, Danilovski D, Woolf J, Cole D.

Indian J Hum Genet. 2011 May;17(2):104-7. doi: 10.4103/0971-6866.86199.

PMID:
22090724
[PubMed]
Free PMC Article
9.

Congenital erythropoietic porphyria: a case report.

Chiewchanvit S, Mahanupab P, Vanittanakom P.

J Med Assoc Thai. 1998 Dec;81(12):1023-7.

PMID:
9916395
[PubMed - indexed for MEDLINE]
10.

[Congenital erythropoietic porphyria].

Tanigawa K, Takamura N, Yamashita S.

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

PMID:
7616657
[PubMed - indexed for MEDLINE]
11.

Late onset erythropoietic porphyria (Gunther's disease).

Rao SU, Dar NR, Abbas M, Mumtaz J.

J Coll Physicians Surg Pak. 2011 Sep;21(9):564-6. doi: 09.2011/JCPSP.564566.

PMID:
21914417
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
17298225
[PubMed - indexed for MEDLINE]
Free Article
14.

Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.

Baran M, Eliaçık K, Kurt I, Kanık A, Zengin N, Bakiler AR.

Turk J Pediatr. 2013 Mar-Apr;55(2):218-21.

PMID:
24192686
[PubMed - indexed for MEDLINE]
Free Article
15.

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ.

Am J Hum Genet. 2006 Apr;78(4):645-58. Epub 2006 Feb 9.

PMID:
16532394
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria.

Mazurier F, Géronimi F, Lamrissi-Garcia I, Morel C, Richard E, Ged C, Fontanellas A, Moreau-Gaudry F, Morey M, de Verneuil H.

Mol Ther. 2001 Mar;3(3):411-7.

PMID:
11273784
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Congenital erythropoietic porphyria in two siblings.

Jacobo A, Almeida HL Jr, Jorge VM.

Dermatol Online J. 2005 Dec 1;11(3):15. English, Portuguese.

PMID:
16409911
[PubMed - indexed for MEDLINE]
Free Article
19.

Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.

Kontos AP, Ozog D, Bichakjian C, Lim HW.

Br J Dermatol. 2003 Jan;148(1):160-4. Review.

PMID:
12534613
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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