Neonatal screening for biotinidase deficiency in north eastern italy |
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| Authors: | A. B. Burlina W. G. Sherwood M. V. Marchioro B. Dalla Bernardina D. Gaburro |
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| Affiliation: | (1) Department of Paediatrics, University of Verona, Policlinic Borgo Roma, I-37134 Verona, Italy;(2) Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada |
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| Abstract: | ![]()
Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24300 newborns during a 6 monthperiod when 1 infant with biotinidase deficiency was detected. On the basis of these results, this disorder appears to be as common as other well known metabolic disorders for which mass screening is available.Abbreviation MCD multiple carboxylase deficiency |
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| Keywords: | Biotinidase deficiency Neonatal mass screening |
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