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Inheritance in erythropoietic protoporphyria: Molecular basis of variable phenotypes observed in families. [PDF]
, 2003 Risheg, Hiba
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Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria. [PDF]
HepatologyLevy C +22 more
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International Journal of Biochemistry, 1980
Erythropoietic protoporphyria (EEP) is the most frequently found erythropoietic porphyria in men. This inborn error of heme metabolism with autosomal dominant mode of inheritance is based on a deficiency of ferrochelatase. This defect leads to an increase for protoporphyrins predominantly in the red cells.
C, Bopp, L, Bakos, M, da Graça Busko
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Erythropoietic protoporphyria (EEP) is the most frequently found erythropoietic porphyria in men. This inborn error of heme metabolism with autosomal dominant mode of inheritance is based on a deficiency of ferrochelatase. This defect leads to an increase for protoporphyrins predominantly in the red cells.
C, Bopp, L, Bakos, M, da Graça Busko
openaire +4 more sources
Erythropoietic protoporphyria.
British Journal of Dermatology, 1976The terminal stages of erythropoietic protoporphyria are recorded. The observations are related to the site of the fundamental lesion and the nature of the biochemical defect. The possibly ominous prognosis in this usually mild condition is emphasized. Apart from congenital porphyria, the porphyrias do not usually confer severe cutaneous lesions. These
D M, Macdonald, D C, Nicholson
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Journal of Inherited Metabolic Disease, 1997
AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of
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AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of
openaire +2 more sources