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Items: 1 to 20 of 35

1.

Vitamin D deficiency in patients with erythropoietic protoporphyria.

Spelt JM, de Rooij FW, Wilson JH, Zandbergen AA.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S1-4.

PMID:
24137761
2.

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network.

Mol Med. 2013 Apr 30;19:26-35. doi: 10.2119/molmed.2012.00340.

3.

Liver transplantation for erythropoietic protoporphyria in Europe.

Wahlin S, Stal P, Adam R, Karam V, Porte R, Seehofer D, Gunson BK, Hillingsø J, Klempnauer JL, Schmidt J, Alexander G, O'Grady J, Clavien PA, Salizzoni M, Paul A, Rolles K, Ericzon BG, Harper P; European Liver and Intestine Transplant Association.

Liver Transpl. 2011 Sep;17(9):1021-6. doi: 10.1002/lt.22341.

4.

Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria.

Minder EI.

Expert Opin Investig Drugs. 2010 Dec;19(12):1591-602. doi: 10.1517/13543784.2010.535515. Epub 2010 Nov 13. Review.

PMID:
21073357
5.

Structure and function of enzymes in heme biosynthesis.

Layer G, Reichelt J, Jahn D, Heinz DW.

Protein Sci. 2010 Jun;19(6):1137-61. doi: 10.1002/pro.405. Review.

6.

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.

7.

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.

Minder EI, Schneider-Yin X, Mamet R, Horev L, Neuenschwander S, Baumer A, Austerlitz F, Puy H, Schoenfeld N.

J Eur Acad Dermatol Venereol. 2010 Nov;24(11):1349-53. doi: 10.1111/j.1468-3083.2010.03640.x.

PMID:
20337824
8.

Porphyrias.

Puy H, Gouya L, Deybach JC.

Lancet. 2010 Mar 13;375(9718):924-37. doi: 10.1016/S0140-6736(09)61925-5. Review.

PMID:
20226990
9.

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN.

Br J Dermatol. 2010 Mar;162(3):642-6. doi: 10.1111/j.1365-2133.2010.09631.x. Epub 2010 Jan 22.

PMID:
20105171
10.

Acquired erythropoietic protoporphyria.

Blagojevic D, Schenk T, Haas O, Zierhofer B, Konnaris C, Trautinger F.

Ann Hematol. 2010 Jul;89(7):743-4. doi: 10.1007/s00277-009-0859-7. Epub 2009 Nov 10. No abstract available.

PMID:
19902211
11.

Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone.

Harms JH, Lautenschlager S, Minder CE, Minder EI.

Photochem Photobiol. 2009 Nov-Dec;85(6):1434-9. doi: 10.1111/j.1751-1097.2009.00595.x.

PMID:
19656325
12.

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.

Méndez M, Poblete-Gutiérrez P, Morán-Jiménez MJ, Rodriguez ME, Garrido-Astray MC, Fontanellas A, Frank J, de Salamanca RE.

Br J Dermatol. 2009 Jun;160(6):1330-4. doi: 10.1111/j.1365-2133.2009.09084.x. Epub 2009 Mar 9. No abstract available.

PMID:
19298273
13.

A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.

Minder EI, Schneider-Yin X, Steurer J, Bachmann LM.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):84-97. Review.

PMID:
19268006
14.

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

Holme SA, Whatley SD, Roberts AG, Anstey AV, Elder GH, Ead RD, Stewart MF, Farr PM, Lewis HM, Davies N, White MI, Ackroyd RS, Badminton MN.

J Invest Dermatol. 2009 Mar;129(3):599-605. doi: 10.1038/jid.2008.272. Epub 2008 Sep 11.

15.

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H.

Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4.

16.

Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria.

Wahlin S, Srikanthan N, Hamre B, Harper P, Brun A.

Liver Transpl. 2008 Sep;14(9):1340-6. doi: 10.1002/lt.21527.

17.

Erythropoietic porphyrias: animal models and update in gene-based therapies.

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

Curr Gene Ther. 2008 Jun;8(3):176-86. Review.

PMID:
18537592
18.

Serum 25-hydroxyvitamin D in erythropoietic protoporphyria.

Holme SA, Anstey AV, Badminton MN, Elder GH.

Br J Dermatol. 2008 Jul;159(1):211-3. doi: 10.1111/j.1365-2133.2008.08616.x. Epub 2008 Jul 1.

PMID:
18476956
19.

Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.

Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN.

J Invest Dermatol. 2007 Dec;127(12):2790-4. Epub 2007 Jun 28.

20.

Symptomatic response of erythropoietic protoporphyria to iron supplementation.

Holme SA, Thomas CL, Whatley SD, Bentley DP, Anstey AV, Badminton MN.

J Am Acad Dermatol. 2007 Jun;56(6):1070-2. No abstract available.

PMID:
17504727
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