Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms
Author:
Funder
Danish Council of Independent Medical Research
Aarhus County Research Initiative
The John and Birthe Meyer Foundation
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0047-1/fulltext.html
Reference144 articles.
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2. Andresen BS, Bross P, Udvari S et al (1997) The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet 6(5):695–707
3. Armstrong DL, Masiowski ML, Wood PA (1993) Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice. Am J Med Genet 47(6):884–892
4. Ashrafi G, Schwarz TL (2013) The pathways of mitophagy for quality control and clearance of mitochondria. Cell Death Differ 20(1):31–42
5. Baerlocher KE, Steinmann B, Aguzzi A, Krahenbuhl S, Roe CR, Vianey-Saban C (1997) Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. J Inherit Metab Dis 20(3):427–431
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