{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:59:25Z","timestamp":1758477565660},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1983,8,12]],"date-time":"1983-08-12T00:00:00Z","timestamp":429494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1984,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A quantitative assay for 3\u2010hydroxyisovaleric acid in amniotic fluid was developed using D<jats:sub>6<\/jats:sub>\u20103\u2010hydroxyisovaleric acid as an internal standard. 3\u2010Hydroxyisovaleric acid was isolated by liquid partition chromatography and the amount determined by selected ion monitoring, ammonia chemical ionization gas chromatography\u2010mass spectrometry of the trimethylsilyl derivatives. The concentration of 3\u2010hydroxyisovaleric acid in ten normal amniotic fluids was 4.52\u00b11.73 \u00b5mol\/l. The level was elevated eight\u2010fold in the amniotic fluid from a pregnancy resulting in the birth of a child with biotin\u2010responsive multiple carboxylase deficiency. The stable isotope dilution assay of 3\u2010hydroxyisovaleric acid in amniotic fluid is a rapid, sensitive and accurate method for the prenatal diagnosis of this disorder, and may be of value in the prenatal diagnosis of other inherited disorders of leucine catabolism.<\/jats:p>","DOI":"10.1007\/bf01805614","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:53:45Z","timestamp":1119916425000},"page":"15-20","source":"Crossref","is-referenced-by-count":46,"title":["Stable isotope dilution analysis of 3\u2010hydroxyisovaleric acid in amniotic fluid: Contribution to the prenatal diagnosis of inherited disorders of leucine catabolism"],"prefix":"10.1002","volume":"7","author":[{"given":"C.","family":"Jakobs","sequence":"first","affiliation":[{"name":"Department of Pediatrics, M\u2010009 University of California, San Diego  La Jolla CA 92093 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Sweetman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, M\u2010009 University of California, San Diego  La Jolla CA 92093 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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