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Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening

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Journal of Inherited Metabolic Disease

Summary

Zellweger syndrome was diagnosedpost mortem by determining the very long-chain fatty acids in a blood spot collected at neonatal screening.

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Authors and Affiliations

  1. Department of Pediatrics, Free University Hospital, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands

    C. Jakobs, C. M. M. van den Heuvel & F. Stellaard

  2. Service de Pédiatrie et Génétique Médicales, Hôpital Huviez, Lille, France

    C. Largillière

  3. Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark

    F. Skovby & E. Christensen

Authors
  1. C. Jakobs
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  2. C. M. M. van den Heuvel
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  3. F. Stellaard
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  4. C. Largillière
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  5. F. Skovby
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  6. E. Christensen
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Jakobs, C., van den Heuvel, C.M.M., Stellaard, F. et al. Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening. J Inherit Metab Dis 16, 63–66 (1993). https://doi.org/10.1007/BF00711316

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  • DOI: https://doi.org/10.1007/BF00711316

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