Case Reports
[Demonstration of hereditary enzyme defect in coproporphyria]
[Article in
French]
- PMID: 866144
Item in Clipboard
Case Reports
[Demonstration of hereditary enzyme defect in coproporphyria]
[Article in
French]
Nouv Presse Med.
.
Abstract
We measured lymphocytes Coproporphyrinogen III Oxidase activity in 17 subjects with hereditary coproporphyria. The mean activity was about 50% of that in lymphocytes from normal subjects. This finding suggests that decreased coproporphyrinogen III oxidase activity reflects the primary genetic defect in Hereditary Coproporphyria. The technique described allows easy detection of asymptomatic carriers.
Similar articles
-
Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria.Biochem Biophys Res Commun. 1977 Feb 7;74(3):1089-95. doi: 10.1016/0006-291x(77)91630-8. Biochem Biophys Res Commun. 1977. PMID: 843348 No abstract available.
-
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):49-55. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929047 Review.
-
Coproporphyrinogen-oxidase deficiency in hereditary coproporphyria.Lancet. 1977 Jan 15;1(8003):140. doi: 10.1016/s0140-6736(77)91725-1. Lancet. 1977. PMID: 64669 No abstract available.
-
The primary enzyme defect in hereditary coproporphyria.Lancet. 1976 Dec 4;2(7997):1217-9. doi: 10.1016/s0140-6736(76)91143-0. Lancet. 1976. PMID: 63041
-
[Hereditary coproporphyria (Hepatic coproporphyria), Erythropoietic coproporphyria].Nihon Rinsho. 1995 Jun;53(6):1433-7. Nihon Rinsho. 1995. PMID: 7616659 Review. Japanese.