𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria

✍ Scribed by Giovanni Romeo; Bertis L. Glenn; Ephraim Y. Levin


Publisher
Springer
Year
1970
Tongue
English
Weight
452 KB
Volume
4
Category
Article
ISSN
0006-2928

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


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

Molecular basis of congenital erythropoi
✍ Weiming Xu; Kenneth H. Astrin; Robert J. Desnick πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 541 KB

Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, uroporphyrinogen 111 synthase (URO-synthase). T o date, 17 mutations have been described including 1

Novel point mutation in the uroporphyrin
✍ Takamura, Noboru; Hombrados, Isabelle; Tanigawa, Ken; Namba, Hiroyuki; Nagayama, πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 168 KB πŸ‘ 2 views

The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu Β¨nther's disease. The patient was h