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Acute intermittent porphyria: A psychometric study of twenty-five patients

✍ Scribed by Lennart Wetterberg; Eric Österberg


Book ID
115997323
Publisher
Elsevier Science
Year
1969
Tongue
English
Weight
202 KB
Volume
13
Category
Article
ISSN
0022-3999

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Molecular study of the hydroxymethlybila
✍ Anita Gregor; Xiaoye Schneider-Yin; Urszula Szlendak; Albert Wettstein; Agnieszk 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB

Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene. In this study, we analyzed 20 Polish patients affected by AIP and we were able to characterize seven novel mut