COPROPORPHYRINOGEN-OXIDASE DEFICIENCY IN HEREDITARY COPROPORPHYRIA
β Scribed by Nordmann, Yves; Grandchamp, Bernard; Phung, Nhu; De Verneuil, Hubert; Grelier, Mireille; Noire, Janine
- Book ID
- 121906848
- Publisher
- The Lancet
- Year
- 1977
- Tongue
- English
- Weight
- 140 KB
- Volume
- 309
- Category
- Article
- ISSN
- 0140-6736
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π SIMILAR VOLUMES
## Communicated by Peter Byers Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase (CPO). Clinical manifestations of the disease are characterized by acute attacks of neurological dysfunctio
Hereditary coproporphyria is a dominantly inherited disorder of porphyrin metabolism caused by a partial deficiency of coproporphyrinogen oxidase, the sixth enzyme in the heme synthetic pathway. We investigated the molecular basis of hereditary coproporphyria in three unrelated patients, amplifying