Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography - mass spectrometry
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00711428
Reference22 articles.
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2. Fournier B, Smeitink JAM, Dorland L, Berger R, Saudubray J-M, Poll-The BT (1994) Peroxisomal disorders: a review.J Inher Metab Dis 17: 470?486.
3. Gustafsson J, Sisfontes L, Bjorkhem I (1987) Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored blood collected at neonatal screening.J Pediatr 111: 264?267.
4. Harrison AG (1992)Chemical Ionization Mass Spectrometry, 2nd edn. Boca Raton: CRC Press.
5. Heymans HSA, Wanders RJA, Schutgens RBH (1990) Peroxisomal disorders. In Fernandez J, Saudubray J-M, Tada K, eds.Inborn Errors of Metabolism. Heidelberg: Springer Verlag, 421?437.
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