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Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase ii deficiency

โœ Scribed by Isackson, Paul J.; Sutton, Kristin A.; Hostetler, Karl Y.; Vladutiu, Georgirene D.


Book ID
118764853
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
398 KB
Volume
47
Category
Article
ISSN
0148-639X

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Molecular basis of very long chain acyl-
โœ Hiroh Watanabe; Kenji E. Orii; Toshiyuki Fukao; Xiang-Qian Song; Toshifumi Aoyam ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 343 KB ๐Ÿ‘ 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