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Journal of Inherited Metabolic Disease

, Volume 12, Issue 3, pp 338–339 | Cite as

Requirement of high biotin doses in a case of biotinidase deficiency

  • E. Riudor
  • M. A. Vilaseca
  • P. Briones
  • A. Ribes
  • J. Suñé
  • R. Martorell
  • A. Macaya
  • M. Roig
  • A. Ballabriga
Case Report

Keywords

Public Health Internal Medicine Metabolic Disease Biotin Biotinidase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Packman, S., Caswell, N., Gonzalez-Rios, M. C., Kadlecek, T., Cann, H., Rassin, D. and McKay, Ch. Acetyl-CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.Am. J. Hum. Genet. 36 (1984) 80–92Google Scholar
  2. Wolf, B., Grier, R. E., Allen, R. J., Goodman, S. I. and Kien, C. L. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.Clin. Chim. Acta 131 (1983) 273–281Google Scholar
  3. Wolf, B., Heard, G. S., Secor McVoy, J. R. and Grier, R. E. Biotinidase deficiency.Ann. N. Y. Acad. Sci. 254 (1985) 252–262Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • E. Riudor
    • 1
  • M. A. Vilaseca
    • 2
  • P. Briones
    • 2
  • A. Ribes
    • 2
  • J. Suñé
    • 1
  • R. Martorell
    • 1
  • A. Macaya
    • 1
  • M. Roig
    • 1
  • A. Ballabriga
    • 1
  1. 1.Hospital Infantil, Ciutat Sanitària Vall d'HebronBarcelonaSpain
  2. 2.Institut de Bioquímica Clínica, Diputació de Barcelona, CerdanyolaBarcelonaSpain

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