Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation. SCADD is biochemically characterized by increased C4-carnitine in plasma and ethylmalonic acid in urine. The diagnosis of SCADD is confirmed by DNA analysis showing SCA...

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Detalles Bibliográficos
Autores principales: van Maldegem, Bianca T., Wanders, Ronald J. A., Wijburg, Frits A.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Fatty Acid Oxidation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946545/
https://www.ncbi.nlm.nih.gov/pubmed/20429031
http://dx.doi.org/10.1007/s10545-010-9080-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946545/
https://www.ncbi.nlm.nih.gov/pubmed/20429031
http://dx.doi.org/10.1007/s10545-010-9080-z

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