Article
An odd case of heteroallelic acute intermittent porphyria in the Argentinean population.
Cellular and molecular biology (Noisy-le-Grand, France) - 12 Mar 2013
Piñeiro Pauwels M B, Gerez E N, Martinez M C, Melito V A, Parera V E, Batlle A, Rossetti M V
Abstract excerpt
AIP is an acute liver disorder caused by a deficiency of porphobilinogen deaminase (PBGD) characterized by neuroabdominal symptoms. It is an autosomal dominant disease. However, homozygous dominant AIP (HD-AIP) have been described. In some cases erythrodontia was observed. CEP is an autosomal recessive disease produced by mutations in the uroporphyrinogen III synthase gene (UROS), characterized by severe...
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