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The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency

✍ Scribed by M.L Cardoso; M.R Rodrigues; E Leão; E Martins; L Diogo; E Rodrigues; P Garcia; M.O Rolland; L Vilarinho


Book ID
116987522
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
828 KB
Volume
82
Category
Article
ISSN
1096-7192

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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