Isovaleric acidemia: personal history, clinical survey and study of the molecular basis.
Tanaka
K
K
Yale University School of Medicine, Department of Human Genetics, New Haven, CT 06510.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood; D002331:Carnitine / Q000627:therapeutic use; D002460:Cell Line; D002675:Child, Preschool; D005260:Female; D045782:Hemiterpenes; D006801:Humans; D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine / Q000627:therapeutic use; D008297:Male; D010088:Oxidoreductases / Q000378:metabolism*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010421:Pentanoic Acids / Q000097:blood / Q000378:metabolism*; D011379:Prognosis; D014631:Valerates / Q000378:metabolism*
D045782:Hemiterpenes; D010421:Pentanoic Acids; D014631:Valerates; C008216:isovaleric acid; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine; D002331:Carnitine