Found: 9
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New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
- Published in:
- 2000
- By:
- Publication type:
- journal article
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2010, v. 24, n. 11, p. 1349, doi. 10.1111/j.1468-3083.2010.03640.x
- By:
- Publication type:
- Article
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
- Published in:
- 2008
- By:
- Publication type:
- Report
Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 625, doi. 10.1023/B:BOLI.0000042936.20691.ad
- By:
- Publication type:
- Article
Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.
- Published in:
- British Journal of Dermatology, 2015, v. 172, n. 6, p. 1601, doi. 10.1111/bjd.13598
- By:
- Publication type:
- Article
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
- Published in:
- British Journal of Dermatology, 2012, v. 167, n. 4, p. 901, doi. 10.1111/j.1365-2133.2012.11160.x
- By:
- Publication type:
- Article
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.
- Published in:
- British Journal of Dermatology, 2012, v. 167, n. 4, p. 888, doi. 10.1111/j.1365-2133.2012.11154.x
- By:
- Publication type:
- Article
Simultaneous manifestation of variegate porphyria in monozygotic twins.
- Published in:
- 2008
- By:
- Publication type:
- Letter