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Results 1 - 8 of 8 for "Acyl-CoA" dehydrogenase 9 deficiency
  1. ... Angel L, Andresen BS, Wilcken B. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab. 2006 Jan;87(1):32-9. doi: 10.1016/j.ymgme.2005.09.020. ...
  2. ... MedlinePlus Genetics provides information about Mitochondrial complex I deficiency More About This Health Condition acyl-CoA dehydrogenase family member 9, mitochondrial acyl-Coenzyme A dehydrogenase family, member 9 ...
  3. ... variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Citation on PubMed Schmidt ...
  4. ... mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase. Mol ... dehydrogenase deficiency reveals the importance of beta-oxidation in insulin ...
  5. ... in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum ...
  6. ... people may develop health problems related to IBD deficiency. More About This Health Condition ACAD-8 ACAD8_HUMAN Activator-recruited cofactor 42 kDa component acyl-CoA dehydrogenase family, member 8 acyl-coenzyme A dehydrogenase 8 ...
  7. ... is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with ... acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23. ...
  8. ... 488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. Citation on PubMed Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat. 2003 ...