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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
- Newborn Screening
- Clinical Spectrum
- Residual Enzyme Activity
- HPLC Assay