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...
Topics
- Adolescent
- Adult
- Aged
- Aminolevulinic Acid
- DNA
- Family
- Feces
- Female
- Humans
- Hydroxymethylbilane Synthase
- Male
- Middle Aged
- Mutation
- Porphobilinogen
- Porphyria, Acute Intermittent
- Porphyrins
- Retrospective Studies
- Sensitivity and Specificity