Document Detail

Neonatal screening for biotinidase deficiency in north eastern Italy.
MedLine Citation:
PMID:  3391228     Owner:  NLM     Status:  MEDLINE    
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 24,300 newborns during a 6 month-period 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.
A B Burlina; W G Sherwood; M V Marchioro; B D Bernardina; D Gaburro
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  147     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1988 Apr 
Date Detail:
Created Date:  1988-08-18     Completed Date:  1988-08-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  317-8     Citation Subset:  IM    
Department of Paediatrics, University of Verona, Italy.
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MeSH Terms
Amidohydrolases / blood,  deficiency*
Biotin / therapeutic use
Dermatitis / blood,  drug therapy
Infant, Newborn
Mass Screening*
Multiple Carboxylase Deficiency / blood,  prevention & control
Seizures / blood,  drug therapy
Reg. No./Substance:
58-85-5/Biotin; EC 3.5.-/Amidohydrolases; EC

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