Skip to main content
Log in

Neonatal screening for biotinidase deficiency: An update

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Craft, D. V., Cross, N. H., Chandramouli, N. and Wood, H. G. Purification of biotinidase from human plasma and its activity on biotinyl peptides.Biochemistry 24 (1985) 2471–2476

    Article  PubMed  CAS  Google Scholar 

  • Heard, G. S., Secor McVoy, J. R. and Wolf, B. A screening method for biotinidase deficiency in newborns.Clin. Chem. 30 (1984) 125–127

    PubMed  CAS  Google Scholar 

  • Pispa, J. Animal biotinidase.Ann. Med. Exp. Biol. Fenn. 43 Suppl. 5 (1965) 5–39

    Google Scholar 

  • 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 (1983a) 272–281

    Article  Google Scholar 

  • Wolf, B., Grier, R. E., Allen, R. J., Goodman, S. I., Kien, C. L., Parker, W. D., Howell, D. M. and Hurst, D. L. Phenotypic variation in biotinidase deficiency.J. Pediatr. 103 (1983b) 233–237

    Article  PubMed  CAS  Google Scholar 

  • Wolf, B., Heard, G. S., Jefferson, L. G., Proud, V. K., Nance, W. E. and Weissbecker, 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

    Article  PubMed  CAS  Google Scholar 

  • Wolf, B., Heard, G. S., McVoy, J. S. and Raetz, H. M. Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.J. Inher. Metab. Dis. 7, Suppl. 2 (1984) 121–122

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wolf, B., Heard, G.S., Jefferson, L.G. et al. Neonatal screening for biotinidase deficiency: An update. J Inherit Metab Dis 9 (Suppl 2), 303–306 (1986). https://doi.org/10.1007/BF01799736

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01799736

Keywords

Navigation