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Erythropoietic Protoporphyria in a Family

Byeon SW, Hann SK, Kim JH, Im S, Park YK, Kwon OH

Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease....
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A case of erythropoietic protoporphyria

Bong HW, Lee JH, Lee YS, Kim JH

  • KMID: 1693796
  • Korean J Dermatol.
  • 1993 Oct;31(5):817-822.
Erythropoietic protoporphyria, sometimes also called erythrohepitic protoporphyria or simple protoporphyria, is a heritable detect of heme synthesis in which the last enzyme of the heme synthetic pathway, ferrochelatase(or heme synthetase),...
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A Case of Erythropoietic Protoporphyria

Lee DK, Park JS, Cho MK, Son SJ, Kim DJ

  • KMID: 1568850
  • Korean J Dermatol.
  • 2000 Oct;38(10):1375-1379.
Erythropoietic protoporphyria(EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase. EPP is characterized clinically by photosensitivity to visible light commencing in childhood,...
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A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms

Kim BH, Park YN, Chung KS

  • KMID: 2275253
  • Korean J Pediatr Gastroenterol Nutr.
  • 2005 Sep;8(2):263-268.
Erythropoietic protoporphyria is a genetic disorder due to a deficiency of ferrochelatase resulting in excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Severe hepatic failure occurs...
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A Case of Erythropoietic Protoporphyria Screened by RBC Fluorescence Microscopy

Heo EP, Kim SE, Lee WS, Yoon TJ, Kim TH

  • KMID: 2146443
  • Korean J Dermatol.
  • 2002 Jan;40(1):63-67.
Erythropoietic protoporphyria (EPP), caused by decreased activity of the enzyme ferrochelatase, is characterized clinically by burning photosensitivity beginning from childhood, and chemically by excessive amounts of red blood cell protoporphyrins....
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Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report

Yoo DJ, Lee HC, Yu E, Jin YJ, Shim JH, Kim KM, Lim YS, Chung YH, Lee YS, Suh DJ

Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis caused by mutations in the gene encoding the enzyme ferrochelatase. In EPP, deficient ferrochelatase activity leads to the excessive production...
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Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria

Park PJ, Hwang S, Choi YI, Yu YD, Park GC, Jung SW, Yoon SY, Song GW, Ha TY, Lee SG

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity,...
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A Case of Erythropoietic Protoporphyria

Jang KY, Huh KS, Chun IK, Kim YP

  • KMID: 2039152
  • Korean J Dermatol.
  • 1982 Oct;20(5):745-751.
A 26-year-old male has experienced repeated pruritic and burning erythema and edema over the exposed areas of the skin, especially on the face and hands, after sunlight exposure. He stated...
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