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- W68756637 abstract "Porphyria results from enzymatic defects in the heme biosynthetic pathway and leads to the accumulation of intermediates that may be excreted in the urine or feces. This disorder is often classified into erythropoietic and hepatic depending on the primary site of production and accumulation of the porphyrins and their precursors. Clinical presentation is characterized by acute abdominal pain, mental status changes, and peripheral neuropathy. Diagnosis is by identification of the porphyrin precursors in blood, urine, or feces, but the specific genetic mutation needs to be elucidated for definitive diagnosis." @default.
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- W68756637 date "2014-01-01" @default.
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- W68756637 title "The Porphyrias and Sideroblastic Anemias" @default.
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