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Ocular involvement in two symptomatic congenital erythropoietic porphyria

✍ Scribed by F. Oguz; M. Sidal; C. Bayram; N. Sansoy; N. Hekim


Publisher
Springer
Year
1993
Tongue
English
Weight
938 KB
Volume
152
Category
Article
ISSN
0340-6997

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Heterogeneity of mutations in the uropor
✍ 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