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Adenylosuccinase deficiency presenting with epilepsy in early infancy

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Jaeken J, Wadman SK, Duran M, et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148: 126–131.

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  • Maddocks J, Reed T (1989) Urine test for adenylosuccinase deficiency in autistic children. Lancet i: 158–159.

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Authors and Affiliations

  1. Department of Pediatrics, Leiden University Hospital, Leiden, The Netherlands

    P.D. Maaswinkel-Mooij, W. Onkenhout & B. J. H. M. Poorthuis

  2. Department of Neurology, Leiden University Hospital, Leiden, The Netherlands

    L. A. E. M. Laan & O. F. Brouwer

  3. Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium

    J. Jaeken

Authors
  1. P.D. Maaswinkel-Mooij
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  2. L. A. E. M. Laan
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  3. W. Onkenhout
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  4. O. F. Brouwer
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  5. J. Jaeken
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  6. B. J. H. M. Poorthuis
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Maaswinkel-Mooij, P., Laan, L.A.E.M., Onkenhout, W. et al. Adenylosuccinase deficiency presenting with epilepsy in early infancy. J Inherit Metab Dis 20, 606–607 (1997). https://doi.org/10.1023/A:1005323512982

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  • DOI: https://doi.org/10.1023/A:1005323512982

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