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Research Article
Biotinidase deficiency: presymptomatic treatment.
  1. S J Wallace

    Abstract

    Biotinidase deficiency presents with clinical signs of biotin deficiency at the age of 3 months, or soon after. In an infant in whom the diagnosis was made on cord blood, vision and hearing were normal before presymptomatic treatment with biotin. Physical and mental development are good at 14 months.

    https://doi.org/10.1136/adc.60.6.574

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