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Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

✍ Scribed by Pascal Laforêt; Cécile Acquaviva-Bourdain; Odile Rigal; Michèle Brivet; Isabelle Penisson-Besnier; Brigitte Chabrol; Denys Chaigne; Odile Boespflug-Tanguy; Cécile Laroche; Anne-Laure Bedat-Millet; Anthony Behin; Isabelle Delevaux; Anne Lombès; Brage S. Andresen; Bruno Eymard; Christine Vianey-Saban

Book ID
116793876
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
277 KB
Volume
19
Category
Article
ISSN
0960-8966

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Molecular basis of very long chain acyl-
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
✍ 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