𝔖 Bobbio Scriptorium
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Enzyme heterogeneity in the porphyrias

✍ 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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πŸ“œ SIMILAR VOLUMES


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✍ Samia Boulechfar; Vasco Silva; Jean-Charles Deybach; Yves Nordmann; Bernard Gran πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 578 KB

## 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

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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