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10.1038/s41418-018-0179-3 77 KimS
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These proteins play significant roles in biological quality control, programmed cell death, hemostasis and catabolic processes, protein folding, cellular oxidant detoxification, coagulation, and retinal homeostasis
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These entities are congenital metabolism errors of the blood group and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and 5-aminolevulinic acid dehydratase deficiency porphyria.78 Acute intermittent porphyria is the most common type, with an estimated prevalence of one per 100,000 inhabitants.79,80 All patients with hepatic porphyrias should be advised to avoid triggers, such as stress, excessive alcohol and/or tobacco use, and calorie deprivation, given that they are factors that induce messenger RNA and delta-aminolevulinate synthase 1 protein expression in the hepatocytes.8184 This differential diagnosis is mentioned in numerous articles, and a recent study on the prevalence of acute hepatic porphyrias in patients diagnosed with CVS was recently evaluated
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