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Acute hepatic porphyria syndrome with porphobilinogen synthase defect

โœ Scribed by M. Doss; R. Von Tiepermann; J. Schneider


Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
513 KB
Volume
12
Category
Article
ISSN
0020-711X

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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