Congenital erythropoietic porphyria: Insight into the molecular basis of the disease

Congenital erythropoietic porphyria: Insight into the molecular basis of the disease

Congenital Erythropoietic Porphyria (CEP) is a rare inborn error of metabolism charectorised by a deficiency of UROS III enzyme, an important enzyme in the heme biosythetic pathway. It is an autosomal recessive disease and only around 200 cases have been charectorised so far. The clinical presentati...

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Bibliographic Details
Main Authors: Arun Kumar Harith, Sandeep Arora, Seema Kapoor, Bhaskar Mukherjee
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Paediatric Dermatology
Subjects:
Congenital erythropoietic porphyria
erythrodontia
mutation
photodermatitis
uroporphyrinogen III synthase gene
Online Access:http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=1;spage=1;epage=6;aulast=Harith

Internet

http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=1;spage=1;epage=6;aulast=Harith

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