Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

@article{Mslinger2003MolecularCA,
  title={Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies},
  author={Dorothea M{\"o}slinger and Adolf M{\"u}hl and Terttu Suormala and Regula Baumgartner and Sylvia St{\"o}ckler‐Ipsiroglu},
  journal={European Journal of Pediatrics},
  year={2003},
  volume={162},
  pages={S46-S49}
}
Early recognition by newborn screening and oral biotin supplementation may prevent clinical and neurological deficits in profound biotinidase deficiency (residual plasma biotinidase activity <10%). In order to evaluate possible correlations of molecular characteristics, onset and continuation of treatment and clinical outcome, we investigated 21 patients detected by newborn screening and consecutive family investigations. In 18 patients found by newborn screening, the range of biotinidase… 
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TLDR
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