Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient

• Main Authors: Dao Hoang Thien Kim (Author), Asako Kawazoe (Author), Pham Dang Bang (Author), Nguyen Tien Thanh (Author), Shigeru Taketani (Author)
• Format: Book
• Published: Karger Publishers, 2013-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital erythropoietic porphyria (CEP) arises from an autosomal recessive inherited disorder of the porphyrin metabolism, which leads to the accumulation of uroporphyrinogen I in bone marrow, skin and several other tissues by a deficiency of uroporphyrinogen III cosynthase (UROS). We studied a Vi...