Ontology highlight
ABSTRACT:
SUBMITTER: Gucev Z
PROVIDER: S-EPMC3214312 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Gucev Zoran Z Slavevska Nevenka N Tasic Velibor V Laban Nevenka N Pop-Jordanova Nada N Danilovski Dragan D Woolf Jacqueline J Cole Duncan D
Indian journal of human genetics 20110501 2
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and moderate hemolytic anemia. After years of skin damage, her face is mutilated; she has a bald patch on the scalp, hypertrichosis of the neck, areas of skin darkening, and limited joint movements of the ...[more]