Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

doi:10.1684/ejd.2020.3880

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Article

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

European journal of dermatology : EJD - 1 Oct 2020

Ventura Paolo, Brancaleoni Valentina, Di Pierro Elena, Graziadei Giovanna, Macrì Annelise, Carmine Guida Claudio, Nicolli Annamaria, Rossi Maria Teresa, Granata Francesca, Fiorentino Valeria, Fustinoni Silvia, Sala Raffella, Pinton Piergiacomo Calzavara, Trevisan Andrea, Marchini Stefano, Cuoghi Chiara, Marcacci Matteo, Corradini Elena, Sorge Fiammetta, Aurizi Caterina, Savino Maria Grazia, Cappellini Maria Domenica, Pietrangelo Antonello

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. OBJECTIVE: To provide epidemiological data of EPP in Italy. MATERIALS & METHODS: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP)...

Topics

5-Aminolevulinate Synthetase
Adult
Cross-Sectional Studies
Female
Ferrochelatase
Genes, Recessive
Genes, X-Linked
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Incidence

Italy

Male

Molecular Epidemiology

Mutation

Prevalence

Prospective Studies

Protoporphyria, Erythropoietic

Retrospective Studies

Source

Open in PubMed

Identifiers

PMID: 33021473
DOI: 10.1684/ejd.2020.3880

Provenance

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