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Porphobilinogen deaminase in acute intermittent porphyria: activity and concentration in erythrocytes and lymphocytes

โœ Scribed by Lena Lilius; Lars Lannfelt; Lennart Wetterberg; Ylva Floderus; Ann Henrichson; Stig Thunell


Book ID
115827308
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
527 KB
Volume
197
Category
Article
ISSN
0009-8981

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Genetic heterogeneity of the porphobilin
โœ Jin-Sung Lee; Gunnel Lundin; Maria Anvret; Lars Lannfelt; Lotta Forsell; Christi ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 587 KB

Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder affecting the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. The highest prevalence of the disorder has been observed in Scandinavia, especially in northern Sweden (Lappland) where it occurs with