Familial and sporadic porphyria cutanea |
| |
Authors: | H de Verneuil G Aitken Y Nordmann |
| |
Institution: | (1) Department of Biochemistry, Faculté de Médecine Xavier Bichat, Hôpital Louis Mourier, F-92701 Colombes, France;(2) Department of Dermatology, Hôpital Louis Mourier, F-92701 Colombes, France |
| |
Abstract: | Summary Uroporphyrinogen (URO) decarboxylase was measured in hemoglobin-free erythrocytes from subjects with familial porphyria cutanea: the mean activity was about 50% of that found in erythrocytes from normal subjects. Asymptomatic carriers were always found in the family. No enzyme deficiency was found in erythrocytes from subjects with sporadic porphyria cutanea. The measurement of URO decarboxylase in erythrocytes seems to allow an easy distinction between these two groups of porphyria cutanea. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|