Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

@article{Madsen2005ShortbranchedchainAD,
  title={Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping},
  author={P. Madsen and M. Kib{\ae}k and X. Roca and R. Sachidanandam and A. Krainer and E. Christensen and R. Steiner and K. Gibson and T. Corydon and I. Knudsen and R. Wanders and J. Ruiter and N. Gregersen and B. Andresen},
  journal={Human Genetics},
  year={2005},
  volume={118},
  pages={680-690}
}
Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of l-isoleucine catabolism. Little is known about the clinical presentation associated with this enzyme defect, as it has been reported in only a limited number of patients. Because the presence of C5-carnitine in blood may indicate SBCADD, the disorder may be detected by MS/MS-based routine newborn screening. It is, therefore, important to gain more knowledge about the clinical presentation and… Expand
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
Inborn errors of isoleucine degradation: a review.
  • S. Korman
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2006
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