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[Biotinidase deficiency. Progressive encephalopathy curable with biotin].

Authors
  • Héron, B
  • Gautier, A
  • Dulac, O
  • Ponsot, G
Type
Published Article
Journal
Archives françaises de pédiatrie
Publication Date
Dec 01, 1993
Volume
50
Issue
10
Pages
875–878
Identifiers
PMID: 8053766
Source
Medline
License
Unknown

Abstract

The clinical findings of neurologic abnormalities and dermatological signs led to the diagnosis of a metabolic disease that, fortunately, can be treated. This disease could benefit from a mass neonatal screening program.

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