Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency

Published:2010-04-08 Issue:6 Volume:127 Page:619-628
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Shirao Kenichiro,Okada Satoshi,Tajima Go,Tsumura Miyuki,Hara Keiichi,Yasunaga Shin’ichiro,Ohtsubo Motoaki,Hata Ikue,Sakura Nobuo,Shigematsu Yosuke,Takihara Yoshihiro,Kobayashi Masao

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0822-7.pdf

Reference37 articles.

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2. Bennett MJ, Gray RG, Isherwood DM, Murphy N, Pollitt RJ (1985) The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect. J Inherit Metab Dis 8(Suppl 2):135–136

3. Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE (1995) Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 126:910–915

4. Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M (2003) Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics 112:1152–1155

5. Bredesen DE (2008) Programmed cell death mechanisms in neurological disease. Curr Mol Med 8:173–186

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