Enzyme heterogeneity in the porphyrias
β Scribed by J. Thomas Hindmarsh
- Publisher
- Elsevier Science
- Year
- 1990
- Tongue
- English
- Weight
- 322 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0009-9120
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π SIMILAR VOLUMES
## Congenital erythropoietic porphyria (CEP) or Gt~nther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity. We have previously described two missense mutations
Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder affecting the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. The highest prevalence of the disorder has been observed in Scandinavia, especially in northern Sweden (Lappland) where it occurs with