Article
A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.
Folia biologica - 1 Jan 2007
Flachsová E, Verma I C, Ulbrichová D, Saxena R, Zeman J, Saudek V, Raman C S, Martásek P
Abstract excerpt
Based on Internet search, we were contacted by a 50-year-old man suffering from severe abdominal pain. Acute hepatic porphyria was considered from positive Watson-Schwartz test. He, not being a health professional, searched for centres with ability to do molecular diagnosis and for information about therapeutic possibilities. He asked his physician for haem-arginate (Normosang, Orphan Europe, Paris) treatment,...
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