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British Journal of Dermatology, 1994
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.
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Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.
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[Erythropoietic protoporphyria].
Deutsche medizinische Wochenschrift (1946), 1983A 21-year-old patient was observed with oedematous-purpura-like skin changes since earliest childhood occurring in areas with short-term exposure to sunlight. The history suggested erythropoetic protoporphyria and the diagnosis was established by demonstration of fluorocytes in peripheral blood and subsequent porphyrin analysis.
J, Keller, O P, Hornstein
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Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria)
Pediatric Dermatology, 2007Abstract: An 8‐year‐old Caucasian girl had recurrent swelling, itching, burning, and painful sensations in her face and hands since 12 months of age. This reaction occurred after sunlight exposure and to a lesser extent with heat and wind. On physical examination the patient demonstrated mild focal thickening of the skin of the nose and upper lip and ...
Kelly Susan C. +2 more
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Archives of Dermatology, 1974
A clinical study was made of 29 cases of erythropoietic protoporphyria in 14 families. There were 14 female and 15 male patients. The disease set in during early infancy. In 51% of the cases, there were mild systemic symptoms. The clinical appearances were similar to those described by others, except that only four patients (14%) had vesicles and four (
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A clinical study was made of 29 cases of erythropoietic protoporphyria in 14 families. There were 14 female and 15 male patients. The disease set in during early infancy. In 51% of the cases, there were mild systemic symptoms. The clinical appearances were similar to those described by others, except that only four patients (14%) had vesicles and four (
openaire +1 more source