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Phototherapy sequela in a child with congenital erythropoietic porphyria

✍ Scribed by A. Soylu; S. Kavukçu; M. Türkmen

Publisher
Springer
Year
1999
Tongue
English
Weight
81 KB
Volume
158
Category
Article
ISSN
0340-6997

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Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family
✍ Takamura, Noboru; Hombrados, Isabelle; Tanigawa, Ken; Namba, Hiroyuki; Nagayama, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 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 ¨nther's disease. The patient was h