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5 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. 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 ...
  3. 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 ...
  4. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... absence of expression of the paternally contributed 15q11.2-q13 region. ... variant in a PEX gene. Therefore, in children with elevated plasma VLCFA but ...
  5. Amino Acid Metabolism Disorders 
    https://medlineplus.gov/aminoacidmetabolismdisorders.html
    ... deficiency: MedlinePlus Genetics (National Library of Medicine) ... Article: Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for... ...