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1 ailure or end-stage chronic liver disease in erythropoietic protoporphyria.
2 and stem cell gene therapies for congenital erythropoietic protoporphyria.
3 explain the sporadic hepatic consequences of erythropoietic protoporphyria.
4 patic injury occurring sporadically in human erythropoietic protoporphyria.
5 LAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria.
6 of the defect in the human inherited disease erythropoietic protoporphyria.
7 nd improved quality of life in patients with erythropoietic protoporphyria.
8 ease, is similar to that seen in humans with erythropoietic protoporphyria, a disorder of ferrochelat
10 ion analysis was performed for families with erythropoietic protoporphyria and four novel frameshift
11 1 donor site in four unrelated families with erythropoietic protoporphyria, and a G(- 1)-->A substitu
13 ria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X
15 etic studies have shown that the majority of erythropoietic protoporphyria cases are transmitted in d
16 a, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mu
17 mouse models of human rbc disorders, namely erythropoietic protoporphyria (EPP) and beta-thalassemia
20 Amassing of PPIX in erythroid cells promotes erythropoietic protoporphyria (EPP) in the affected fami
30 accumulation of protoporphyrin-IX (PP-IX) in erythropoietic protoporphyria (EPP) or X-linked-dominant
34 n, we report novel mutations associated with erythropoietic protoporphyria: g(+ 1)-->t transversion o
40 subjects and 30 individuals with manifested erythropoietic protoporphyria with or without a known mu
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