ISSN:
1432-1076
Keywords:
Biotinidase deficiency
;
Neonatal mass screening
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442706
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