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Biotinidase deficiency: metabolites in CSF

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Journal of Inherited Metabolic Disease

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References

  • Burri, B. J., Sweetman, L. and Nyhan, W. L. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.Am. J. Hum. Genet. 37 (1985) 320–337

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  • Wolf, B., Heard, G. S., Jefferson, L. G., Proud, V. K., Nance, W. E. and Wissbecker, K. A. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.N. Engl. J. Med. 313 (1985) 16–19

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Authors and Affiliations

  1. Institute of Clinical Paediatrics, University of Siena, Via P. A. Mattioli 10, 53100, Siena, Italy

    A. Fois, M. Cioni, P. Balestri & G. Bartalini

  2. University Children's Hospital, Basel, Switzerland

    R. Baumgartner

  3. Department of Clinical Chemistry, University of Bern, Switzerland

    C. Bachmann

Authors
  1. A. Fois
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  2. M. Cioni
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  3. P. Balestri
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  4. G. Bartalini
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  5. R. Baumgartner
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  6. C. Bachmann
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Fois, A., Cioni, M., Balestri, P. et al. Biotinidase deficiency: metabolites in CSF. J Inherit Metab Dis 9, 284–285 (1986). https://doi.org/10.1007/BF01799663

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  • DOI: https://doi.org/10.1007/BF01799663

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