Article
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
Blood - 1 Dec 1998
Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, Yetgin S, Ersoy F, Aizencang G, Astrin K H, Desnick R J
Abstract excerpt
The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis resulting from m...
Topics
- Bone Marrow Transplantation
- Child, Preschool
- Female
- Humans
- Infant
- Mutation
- Porphyria, Erythropoietic
- Skin
- Transplantation, Homologous
- Uroporphyrinogen III Synthetase