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Three German fibrinogen Aα-chain amyloidosis patients with the p.Glu526Val mutation

✍ Scribed by Magdalena Eriksson; Stefan Schönland; Raoul Bergner; Ute Hegenbart; Peter Lohse; Hartmut Schmidt; Christoph Röcken


Book ID
106117968
Publisher
Springer
Year
2008
Tongue
English
Weight
332 KB
Volume
453
Category
Article
ISSN
1432-2307

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Molecular basis of very long chain acyl-
✍ Hiroh Watanabe; Kenji E. Orii; Toshiyuki Fukao; Xiang-Qian Song; Toshifumi Aoyam 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB 👁 3 views

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients. All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality. Imm