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Wilson disease is a disorder of copper metabolism, caused by biallelic mutations in the ATP7B gene, and characterized by low serum ceruloplasmin levels and elevated daily urinary copper excretion ( Disorders of Haem Biosynthesis Acute Intermittent Porphyria Mutations in hydroxymethylbilane synthase gene ( HMBS ) cause autosomal dominant acute intermittent porphyria (AIP)

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