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Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype

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Correspondence to Sylvia Stöckler-Ipsiroglu.

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Stöckler-Ipsiroglu, S., Strobl, W. & Möslinger, D. Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. Eur J Pediatr 161, 169 (2002). https://doi.org/10.1007/s00431-002-0920-1

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Keywords

  • Biotin
  • Newborn Screening
  • Clinical Spectrum
  • Residual Enzyme Activity
  • HPLC Assay