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

IMPORTANCE: Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype c...

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Vydáno v:JAMA Dermatol
Hlavní autoři: Balwani, Manisha, Naik, Hetanshi, Anderson, Karl E., Bissell, D. Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L., Phillips, John D., Overbey, Jessica R., Wang, Bruce, Singal, Ashwani K., Liu, Lawrence U., Desnick, Robert J.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Medical Association 2017
Témata:
Original Investigation
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5710403/
https://ncbi.nlm.nih.gov/pubmed/28614581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamadermatol.2017.1557
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