Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family
| Autor: | S. Chinarro, George H. Elder, M.L. Villaseca, P. Lazaro, R.E. De Salamanca, G. Jaqueti |
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| Rok vydání: | 2006 |
| Předmět: |
Male
medicine.medical_specialty Erythrocytes Porphyrins Carboxy-Lyases Uroporphyrinogen III decarboxylase Dermatology Biology Skin Diseases Porphyrias Suppression Genetic Internal medicine medicine Uroporphyrinogen decarboxylase deficiency Humans Uroporphyrinogen Decarboxylase Erythropoiesis Porphyria cutanea tarda Uroporphyrinogen decarboxylase activity Liver Diseases Hepatoerythropoietic porphyria Homozygote medicine.disease Pedigree Endocrinology Child Preschool |
| Zdroj: | British Journal of Dermatology. 110:613-617 |
| ISSN: | 1365-2133 0007-0963 |
| Popis: | SUMMARY A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity. |
| Databáze: | OpenAIRE |
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