Article
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Clinical chemistry - 1 Nov 2002
Kauppinen Raili, von und zu Fraunberg Mikael
Abstract excerpt
BACKGROUND: Acute intermittent porphyria (AIP) is a metabolic disease with clinical manifestations that mimic other abdominal, neurologic, or mental crises. We studied the diagnostic accuracy of current laboratory tests during an acute attack and in remission. METHODS: Since 1966, we have studied all known Finnish AIP patients (n = 196) and their families (n = 45) and identified the porphobilinogen deaminase...
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