Congenital erythropoietic porphyria in an Indian Child
Congenital Erythropoetic Porphyria (CEP) also called the "Günther disease", is a rare variant of porphyria. It is caused by the deficiency of uroporphyrinogen III synthase (URO-III-synthase), an enzyme in the heme biosynthetic pathway. Clinically, CEP presents with blistering over face an...
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Main Authors: | Archana Singal (Author), M N Kayarkatte (Author), Deepika Pandhi (Author) |
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Format: | Book |
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Wolters Kluwer Medknow Publications,
2019-01-01T00:00:00Z.
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