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Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO)
2016
Hematology & Transfusion International Journal
The porphyria is a group of rare metabolic disorders that arise from deficiencies in the heme biosynthetic pathway. The prevalence in Europe is 1-2:100,000 inhabitants. These disorders occur mostly due to mutations in the genes encoding enzymes involved in heme production. They are classified and divided into acute (ALA Dehydratase Deficiency [ALADP], Acute Intermittent Porphyria [AIP], Variegate Porphyria [VP], Hereditary Coproporphyria [HCP]), chronic (Congenital Erythropoietic Porphyria
doi:10.15406/htij.2016.02.00052
fatcat:bfpkgmz2zvccjgbqcnao7zbac4