Bile acids in amniotic fluid: Promising metabolites for the prenatal diagnosis of peroxisomal disorders
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01811701
Reference6 articles.
1. Jakobs, C., ten Brink, H., Kok, R. M., Stellaard, F., Kleijer, W. J., Wanders, R. J. A. and Schutgens, R. B. H. Very long chain fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome.Eur. J. Pediatr. 148 (1989) 581
2. Kok, R. M., Kaster, L., de Jong, A. P. J. M., Poll-The, B. T., Saudubray, J. M. and Jakobs, C. Stable isotope dilution analysis of pipecolic acid in CSF, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.Clin. Chim. Acta 168 (1987) 143–152
3. Stellaard, F., Langelaar, S. A., Kok, R. M., Kleijer, W. J., Schutgens, R. B. H. and Jakobs, C. Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid.Eur. J. Pediatr. 148 (1988) 175–176
4. Stellaard, F., Langelaar, S. A., Kok, R. M. and Jakobs, C. Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography.J. Lipid Res. 30 (1989) 1647–1652
5. Stellaard, F., ten Brink, H. J., Kok, R. M., van den Heuvel, L. and Jakobs, C. Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography.Clin. Chim. Acta 192 (1990) 133–144
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2. Peroxisomes and bile acid biosynthesis;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2006-12
3. Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection;Journal of Medical Genetics;2005-01-01
4. Comparison of side chain oxidation of potential C27-bile acid intermediates between mitochondria and peroxisomes of the rat liver: presence of beta-oxidation activity for bile acid biosynthesis in mitochondria;Journal of Lipid Research;1996-12
5. Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography - mass spectrometry;Journal of Inherited Metabolic Disease;1995-01
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