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Bio Tribune Magazine

, Volume 18, Issue 1, pp 36–39 | Cite as

Dépistages des maladies métaboliques en pédiatrie

  • Roselyne Garnotel
  • Stéphane Jaisson
Dossier Thématique: Biologie Néonatale

Résumé

Le dépistage des maladies métaboliques en pédiatrie comprend le dépistage néonatal systématique de cinq maladies rares et graves, chez tous les nouveau-nés. Les évolutions technologiques récentes de la spectrométrie de masse en tandem permettent également le diagnostic de plus de vingt maladies héréditaires du métabolisme, à partir d’une seule tache de sang déposée sur papier.

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Copyright information

© Springer 2006

Authors and Affiliations

  • Roselyne Garnotel
    • 1
  • Stéphane Jaisson
    • 1
  1. 1.Laboratoire de Biologie et de Recherche PédiatriquesAmerican Memorial HospitalReims

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