Delayed-onset profound biotinidase deficiency.

@article{Wolf1998DelayedonsetPB,
  title={Delayed-onset profound biotinidase deficiency.},
  author={Barry Wolf and Robert J. Pomponio and Karen J. Norrgard and I. T. Lott and E. Regula Baumgartner and Terttu Suormala and Vincent Th Ramaekers and Turgay Çoskun and Ayşeg{\"u}l Tokatlı and Imran Ozalp and Jeanne Hymes},
  journal={The Journal of pediatrics},
  year={1998},
  volume={132 2},
  pages={
          362-5
        }
}
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood or during adolescence; they had motor limb weakness, spastic paresis, and eye problems, such as loss of visual acuity and scotomata, rather than the more characteristic symptoms observed in young untreated children with the disorder. These older children each have different mutations, but they are the same as those of children who have… CONTINUE READING

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