BalwaniM. Erythropoietic protoporphyria and X-linked protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019;128(3):298–303.
2.
FrankJPobleteP. Gutiérrez. Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden. J Intern Med. 2011;269(3):270–274.
3.
LeafRKDickeyAK. How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood. 2023;141(24):2921–2931.
4.
GoodwinRGKellWJLaidlerP, et al.Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. Blood. 2006;107(1):60–62.
5.
AplinCWhatleySDThompsonP, et al.Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol. 2001;117(6):1647–1649.
6.
KlastskinGBloomerJ. Birefringence of hepatic pigment deposit in erythropoietic protoporphyria. Specificity of polarization microscopy in the identification of hepatic protoporphyrin deposits. Gastroenterology. 1974;67(2):294–302.
7.
GroßUFrankMDossMO. Hepatic complications of erythropoietic protoporphyria.Photodermatol Photoimmunol Photomed. 1998;14(2):52–57.
8.
ZhaoCGuanJXHuiDY, et al.Liver involvement in patients with erythropoietic protoporphyria: retrospective analysis of clinicopathological features of 5 cases. Ann Diagn Pathol. 2022;56:151859.
9.
HussainZQiQZhuJAndersonKEMaX. Protoporphyrin IX-induced phototoxicity: mechanisms and therapeutics. Pharmacol Ther. 2023;248:108487.
10.
BerroetaLManIGoudieDRWhatleySDElderGHIbbotsonSH. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. Br J Dermatol. 2007;157(5):1030–1031.