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M.O.1 Muscular manifestations of very long-chain acyl-coenzyme A dehydrogenase deficiency: A clinical, and biochemical study in 12 patients

✍ Scribed by P. Laforêt; C. Acquaviva-Bourdain; O. Rigal; M. Brivet; I. Pénisson-Besnier; B. Chabrol; D. Chaigne; O. Boespflug-Tanguy; C. Laroche; A. Bedat-Millet; A. Lombès; B. Andresen; B. Eymard; C. Vianey-Saban


Book ID
116792870
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
64 KB
Volume
17
Category
Article
ISSN
0960-8966

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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