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    Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening

    Biotinidase deficiency (BD) may cause neurological symptoms and developmental problems. However, newborn screening of BD and early biotin treatment prevent the manifestation of the majority of symptoms. This s...

    P. Zengin Akkus, K. Ciki, A. Mete Yesil, E. Ilter Bahadur… in European Journal of Pediatrics (2021)