Diagnosis and management of the erythropoietic porphyrias.
The erythropoietic porphyrias are erythropoietic protoporphyria, and congenital erythropietic porphyria. Diagnosis is made based on clinical manifestations, and their characteristic porphyrin profiles. There are multiple treatment options for these two porphyrias, however, aside from bone marrow transplant for CEP, none is curative.
Murphy
Gillian M
GM
Photobiology Unit, Beaumont Hospital, Dublin, Ireland. gillian@iol.ie
D006418:Heme / Q000096:biosynthesis; D006801:Humans; D007150:Immunohistochemistry; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D014467:Ultraviolet Therapy
D006418:Heme