Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry.
Shigematsu
Y
Y
Department of Pediatrics, Fukui Medical School, Japan.
Kikawa
Y
Y
Sudo
M
M
Kanaoka
H
H
Fujioka
M
M
Dan
M
M
D000653:Amniotic Fluid / Q000737:chemistry; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005998:Glycine / Q000031:analogs & derivatives / Q000032:analysis; D045782:Hemiterpenes; D006801:Humans; D050769:Isovaleryl-CoA Dehydrogenase; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010421:Pentanoic Acids / Q000097:blood*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016339:Spectrometry, Mass, Fast Atom Bombardment
D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; C005916:N-isovalerylglycine; C027333:3-methylbutyrylcarnitine; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase; D002331:Carnitine; D005998:Glycine