Phenotypic Variation in Biotinidase Deficiency

    Barry Wolf, Robert E. Grier, Richard J. Allen, Stephen I. Goodman, C. Lawrence Kien, W. Davis Parker, David M. Howell, Daniel J. Hurst
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    Studysummary In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
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