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Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening

โœ Scribed by Ficicioglu, C.; Hussa, C.


Book ID
120515031
Publisher
Springer
Year
2009
Tongue
English
Weight
92 KB
Volume
32
Category
Article
ISSN
0141-8955

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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