Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy | Zendy

Paolo Ventura | Zendy; Valentina Brancaleoni | Zendy; Elena Di Pierro | Zendy; Giovanna Graziadei | Zendy; Annelise Macrì | Zendy; Claudio Carmine Guida | Zendy; Annamaria Nicolli | Zendy; Mariateresa Rossi | Zendy; Francesca Granata | Zendy; Valeria Fiorentino | Zendy; Silvia Fustii | Zendy; R. Sala | Zendy; Piergiacomo CalzavaraPinton | Zendy; Andrea Trevisan | Zendy; Stefano Marchini | Zendy; Chiara Cuoghi | Zendy; M Marcacci | Zendy; Elena Corradini | Zendy; Fiammetta Sorge | Zendy; Caterina Aurizi | Zendy; Maria Grazia Savino | Zendy; Maria Domenica Cappellini | Zendy; Antonello Pietrangelo | Zendy

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Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy

Author(s) -

Paolo Ventura,

Valentina Brancaleoni,

Elena Di Pierro,

Giovanna Graziadei,

Annelise Macrì,

Claudio Carmine Guida,

Annamaria Nicolli,

Mariateresa Rossi,

Francesca Granata,

Valeria Fiorentino,

Silvia Fustii,

R. Sala,

Piergiacomo CalzavaraPinton,

Andrea Trevisan,

Stefano Marchini,

Chiara Cuoghi,

M Marcacci,

Elena Corradini,

Fiammetta Sorge,

Caterina Aurizi,

Maria Grazia Savino,

Maria Domenica Cappellini,

Antonello Pietrangelo

Publication year - 2020

Publication title -

european journal of dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.48

H-Index - 71

eISSN - 1952-4013

pISSN - 1167-1122

DOI - 10.1684/ejd.2020.3880

Subject(s) - erythropoietic protoporphyria , medicine , porphyria , incidence (geometry) , epidemiology , frameshift mutation , gastroenterology , dermatology , pediatrics , mutation , genetics , protoporphyrin , gene , biology , biochemistry , porphyrin , physics , optics

Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement.

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