A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)
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DOI: 10.1177/0004563218774597
Abstract: A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135–145) and… read more here.
Keywords: reference interval; 863t leu288trp; oxidase gene; posterior reversible ... See more keywords