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Items: 1 to 20 of 126

1.

Erythropoietic protoporphyria: spectrum of three cases.

Bertrand J, Clarke JT, Hanna D.

J Cutan Med Surg. 2012 Sep-Oct;16(5):311-6.

PMID:
22971305
2.

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

Wahlin S, Floderus Y, Stål P, Harper P.

J Intern Med. 2011 Mar;269(3):278-88. doi: 10.1111/j.1365-2796.2010.02236.x.

3.

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.

Herrero C, To-Figueras J, Badenas C, Méndez M, Serrano P, Enríquez-Salamanca R, Lecha M.

Arch Dermatol. 2007 Sep;143(9):1125-9.

PMID:
17875872
4.

A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.

Farrag MS, Kučerová J, Šlachtová L, Šeda O, Šperl J, Martásek P.

Folia Biol (Praha). 2015;61(6):227-32.

5.

Genetic study in a Singaporean patient with erythropoietic protoporphyria.

Chuah SY, Tee SI, Pramono ZA, Theng CT.

Photodermatol Photoimmunol Photomed. 2012 Oct;28(5):269-71. doi: 10.1111/j.1600-0781.2012.00685.x.

PMID:
22971195
6.

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ.

JAMA Dermatol. 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557.

PMID:
28614581
7.

X-linked dominant protoporphyria: The first reported Japanese case.

Ninomiya Y, Kokunai Y, Tanizaki H, Akasaka E, Nakano H, Moriwaki S.

J Dermatol. 2016 Apr;43(4):414-8. doi: 10.1111/1346-8138.13101. Epub 2015 Sep 21.

PMID:
26387792
8.

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

Berroeta L, Man I, Goudie DR, Whatley SD, Elder GH, Ibbotson SH.

Br J Dermatol. 2007 Nov;157(5):1030-1. Epub 2007 Aug 17.

PMID:
17711525
9.

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.

Parera VE, Koole RH, Minderman G, Edixhoven A, Rossetti MV, Batlle A, de Rooij FW.

Mol Med. 2009 Nov-Dec;15(11-12):425-31. doi: 10.2119/molmed.2009.00006. Epub 2009 Aug 12.

10.

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.

Bloomer JR, Wang Y, Singhal A, Risheg H.

J Pediatr Gastroenterol Nutr. 2006 Jul;43 Suppl 1:S36-40.

PMID:
16819399
11.

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.

Morais P, Mota A, Baudrier T, Trigo F, Oliveira JP, Cerqueira R, Palmeiro A, Tavares P, Azevedo F.

Eur J Dermatol. 2011 Jul-Aug;21(4):479-83. doi: 10.1684/ejd.2011.1361.

PMID:
21659066
12.

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.

Schneider-Yin X, Mamet R, Minder EI, Schoenfeld N.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S363-7. doi: 10.1007/s10545-008-0924-8. Epub 2008 Aug 31.

PMID:
18758989
13.

Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.

Wang Y, Langer NB, Shaw GC, Yang G, Li L, Kaplan J, Paw BH, Bloomer JR.

Exp Hematol. 2011 Jul;39(7):784-94. doi: 10.1016/j.exphem.2011.05.003. Epub 2011 May 11.

14.

DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.

Lau KC, Lam CW, Fong B, Siu TS, Tam S.

Clin Chim Acta. 2009 Feb;400(1-2):132-4. doi: 10.1016/j.cca.2008.09.031. Epub 2008 Oct 10. No abstract available.

PMID:
18976643
15.

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.

Kong XF, Ye J, Gao DY, Gong QM, Zhang DH, Lu ZM, Lu YM, Zhang XX.

J Hepatol. 2008 Feb;48(2):375-9. Epub 2007 Nov 26.

PMID:
18160121
16.

Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.

Mizawa M, Makino T, Nakano H, Sawamura D, Shimizu T.

Br J Dermatol. 2016 Jan;174(1):172-5. doi: 10.1111/bjd.14078. Epub 2015 Nov 7.

PMID:
26280465
17.

[Inheritance in erythropoietic protoporphyria].

Schmitt C, Ducamp S, Gouya L, Deybach JC, Puy H.

Pathol Biol (Paris). 2010 Oct;58(5):372-80. doi: 10.1016/j.patbio.2010.01.007. Epub 2010 Sep 20. Review. French.

PMID:
20850938
18.

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.

Long ZB, Wang YW, Yang C, Liu G, Du YL, Nie GJ, Chang YZ, Han B.

J Zhejiang Univ Sci B. 2016 Oct.;17(10):813-820. Review.

19.

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.

Colombo FP, Rossetti MV, Méndez M, Martínez JE, Enríquez de Salamanca R, del C Batlle AM, Parera VE.

J Eur Acad Dermatol Venereol. 2013 Jun;27(6):754-62. doi: 10.1111/j.1468-3083.2012.04566.x. Epub 2012 May 16.

PMID:
22591014
20.

Erythropoietic protoporphyria.

Lecha M, Puy H, Deybach JC.

Orphanet J Rare Dis. 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. Review.

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