Article

Erythropoietic Protoporphyria Life Impact and Genetic Health Trajectory (LIGHT) Study in Europe: A Cross-Sectional Online Questionnaire

2026-06-28

Abstract excerpt

<title>Abstract</title> <p>Background: Erythropoietic protoporphyria and X-linked protoporphyria (collectively, EPP) are rare inherited metabolic disorders of the heme biosynthetic pathway characterized by severe photosensitivity and painful phototoxic reactions upon sunlight exposure. This study sought to describe health-related quality of life, symptoms, and healthcare resource utilization in European patients...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 10d7bb4c-8ee4-577b-9231-20380013b654
DOI: 10.21203/rs.3.rs-9904209/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Erythropoietic Protoporphyria Life Impact and Genetic Health Trajectory (LIGHT) Study in Europe: A Cross-Sectional Online QuestionnaireDOI 10.21203/rs.3.rs-9904209/v1Read

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.Semantic proximity Read

Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked ProtoporphyriaSemantic proximity Read

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

The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.Semantic proximity Read

Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.Semantic proximity Read

Impacts of X-linked retinitis pigmentosa and patient pathways in European countries: results from the cross-sectional EXPLORE XLRP-1 physician surveySemantic proximity Read

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.Semantic proximity Read

Erythropoietic protoporphyriaSemantic proximity Read

Congenital erythropoietic porphyria: a single-observer clinical study of 29 casesSemantic proximity Read

Erythropoietic protoporphyria: spectrum of three cases.Semantic proximity Read

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.Semantic proximity Read

Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UKSemantic proximity Read