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8 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... html:p >The <html:i >ACADSB</html:i> gene provides instructions for making an enzyme called short/branched chain acyl-CoA dehydrogenase (SBCAD, also known as 2-methylbutyryl-CoA dehydrogenase), which plays an important role ...
  2. Genes 
    https://medlineplus.gov/genetics/gene
    ... dehydrogenase short chain ACADSB : acyl-CoA dehydrogenase short/branched chain ACADVL : ... actin alpha 2, smooth muscle ACTB : actin beta ACTG1 : actin gamma ...
  3. Genetic Conditions: 0-9 
    https://medlineplus.gov/genetics/condition-0
    ... aciduria 2-hydroxyglutaric aciduria 2-MBADD, see Short/branched chain acyl-CoA dehydrogenase deficiency 2-MBCD deficiency, see Short/branched chain acyl-CoA ...
  4. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... pristanic acid) and C27 bile acids. A unique branched-chain acyl-CoA oxidase is used for bile acids and pristanic acid, ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... genetics/gene/acads</url></topic><topic ><title >ACADSB: acyl-CoA dehydrogenase short/branched chain</title><url >https://medlineplus.gov/genetics/gene/acadsb</url></topic><topic ><title >ACADVL: acyl-CoA ...
  6. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... Differential Diagnosis of MADD View in own window Gene Disorder ... ALDOA GSD XII (OMIM 611881 ) CPT1A Carnitine palmitoyltransferase ...
  7. Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... into pristanoyl-CoA via the peroxisomal very-long-chain acyl-CoA synthetase (see Note 2), which has its catalytic site facing the lumen ... from the phytanic acid alpha-oxidation route, including 2-hydroxyphytanoyl-CoA lyase and very-long-chain acyl-CoA synthetase, are PTS1 proteins, which are targeted ...
  8. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... reflect low natural protein intake, imbalanced intake of branched chain amino acid from use of metabolic formulas, or effects of chronic acidosis on branched chain amino acid metabolism [ Manoli et al 2016b ]. Surveillance ...