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7 results
  1. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... genetics/gene/acp5</url></topic><topic ><title >ACSF3: acyl-CoA synthetase family member 3</title><url >https://medlineplus.gov/genetics/gene/acsf3</url></topic><topic ><title >ACTA1: actin alpha 1, skeletal muscle</title><url >https://medlineplus.gov/genetics/ ...
  2. Genes 
    https://medlineplus.gov/genetics/gene
    ... short/branched chain ACADVL : acyl-CoA dehydrogenase very long chain ACAN : ... acyl-CoA synthetase family member 3 ACTA1 : actin alpha 1, skeletal muscle ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... CoA synthetase family member 3, mitochondrial</synonym><synonym ... >actin alpha 1, skeletal muscle</name><ghr-page >https://medlineplus.gov/ ...
  4. Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... acid into pristanoyl-CoA via the peroxisomal very-long-chain acyl-CoA synthetase (see Note 2), which has its catalytic site facing the lumen of the peroxisome [ Smith et al 2000 ] Note: (1) In case of a deficiency at the level ...
  5. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... Acyl-CoA Dehydrogenase Deficiency View in own window Gene(s) Disorder MOI Biochemical ... synthetase I deficiency (See Urea Cycle Disorders Overview .) AR ...
  6. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... chain VLCFA β-oxidation requires the enzymes very-long-chain acyl-CoA synthetase, acyl-CoA oxidase, D-bifunctional protein (enoyl-CoA ...
  7. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... 30, 2007; Last Update: May 14, 2015. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview Shamima Rahman and David Thorburn. Initial Posting: October 1, 2015; Last Update: July 16, 2020. O OTOF - ...