Article
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany.
Journal of inherited metabolic disease - 1 Jan 2004
Doss M O, Stauch T, Gross U, Renz M, Akagi R, Doss-Frank M, Seelig H P, Sassa S
Abstract excerpt
Delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria, or Doss porphyria, was first reported in Germany in 1979. Only four bona fide cases of Doss porphyria have been reported to date that were confirmed by immunological and molecular analyses of their ALAD mutations. Here we describe the fifth case of Doss porphyria. A 17-year-old German male suffered from colicky abdominal pain and severe...
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