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1 nd improved quality of life in patients with erythropoietic protoporphyria.
2 ailure or end-stage chronic liver disease in erythropoietic protoporphyria.
3 and stem cell gene therapies for congenital erythropoietic protoporphyria.
4 explain the sporadic hepatic consequences of erythropoietic protoporphyria.
5 patic injury occurring sporadically in human erythropoietic protoporphyria.
6 of the defect in the human inherited disease erythropoietic protoporphyria.
7 al disorders but multiorgan diseases such as erythropoietic protoporphyria.
8 LAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria.
9 ease, is similar to that seen in humans with erythropoietic protoporphyria, a disorder of ferrochelat
12 ion analysis was performed for families with erythropoietic protoporphyria and four novel frameshift
14 1 donor site in four unrelated families with erythropoietic protoporphyria, and a G(- 1)-->A substitu
15 ading to functional iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative m
17 e sexual desire disorder (bremelanotide) and erythropoietic protoporphyria-associated phototoxicity (
18 ria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X
20 etic studies have shown that the majority of erythropoietic protoporphyria cases are transmitted in d
21 a, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mu
22 mouse models of human rbc disorders, namely erythropoietic protoporphyria (EPP) and beta-thalassemia
25 Amassing of PPIX in erythroid cells promotes erythropoietic protoporphyria (EPP) in the affected fami
38 accumulation of protoporphyrin-IX (PP-IX) in erythropoietic protoporphyria (EPP) or X-linked-dominant
42 n, we report novel mutations associated with erythropoietic protoporphyria: g(+ 1)-->t transversion o
46 reduce sunlight sensitivity in patients with erythropoietic protoporphyria or X-linked protoporphyria
47 ptom-free sunlight exposure in patients with erythropoietic protoporphyria or X-linked protoporphyria
48 ated with sunlight exposure in patients with erythropoietic protoporphyria or X-linked protoporphyria
51 subjects and 30 individuals with manifested erythropoietic protoporphyria with or without a known mu
52 cute porphyrias are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked protoporphyria,