Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening
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- Jakobs, C., van den Heuvel, C.M.M., Stellaard, F. et al. J Inherit Metab Dis (1993) 16: 63. doi:10.1007/BF00711316
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Zellweger syndrome was diagnosedpost mortem by determining the very long-chain fatty acids in a blood spot collected at neonatal screening.
© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1993