Neonatal screening for biotinidase deficiency in north eastern italy
- 31 March 1988
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 147 (3) , 317-318
- https://doi.org/10.1007/bf00442706
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.This publication has 6 references indexed in Scilit:
- Neonatal screening for biotinidase deficiency: An updateJournal of Inherited Metabolic Disease, 1986
- Neonatal screening for biotinidase deficiency: Results of a 1-year pilot studyThe Journal of Pediatrics, 1986
- Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening ProgramNew England Journal of Medicine, 1985
- A screening method for biotinidase deficiency in newborns.Clinical Chemistry, 1984
- Neonatal Screening for Inborn Errors of MetabolismPublished by Springer Nature ,1980