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Erythropoietic protoporphyria with fatal liver failure

✍ Scribed by Akiko Ishibashi; Riko Ogata; Shotaro Sakisaka; Ryukichi Kumashiro; Yuriko Koga; Keiichi Mitsuyama; Ryoko Kuromatsu; Yasuyo Uchimura; Hiroyasu Ijyuin; Kumi Tanaka; Tadashi Iwao; Kunihide Ishii; Michio Sata; Yoshiko Inoue; Yasuko Kin; Kotaro Oizumi; Hidemi Nishida; Tsutomu Imaizumi; Kyuichi Tanikawa


Publisher
Springer Japan
Year
1999
Tongue
English
Weight
324 KB
Volume
34
Category
Article
ISSN
0944-1174

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We investigated the molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, and defined a novel point mutation in the ferrochelatase gene. cDNAs were synthesized using Epstein-Barr-virus-transformed lymphoblastoid cells fr

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In erythropoietic protoporphyria (EPP), there is excessive production of protoporphyrin, primarily in the bone marrow, resulting in increased biliary excretion of this heme precursor. Some patients will develop progressive liver disease that may ultimately require liver transplantation. However, exc

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