Susan D. Mathias

Erythropoietic protoporphyria life impact and genetic health trajectory (LIGHT) study in Europe: a cross-sectional online questionnaire

Abstract 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 s...