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Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Sonia PajaresJose Antonio ArranzAida OrmazabalMireia Del ToroÁngeles García-CazorlaAleix Navarro-SastreRosa María LópezSilvia María MeavillaMariela Mercedes de Los SantosCamila García-VolpeJose Manuel González de Aledo-CastilloAna ArgudoJose Luís MarínClara CarnicerRafael ArtuchFrederic TortLaura GortRosa FernándezJudit García-VilloriaAntonia Ribes
Published in: Orphanet journal of rare diseases (2021)
When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B12 deficiency should be done. The results of our strategy support the inclusion of this acquired condition in the NBS programs, as it is easily detectable and allows the adoption of corrective measures to avoid the consequences of its deficiency.
Keyphrases
  • primary care
  • healthcare
  • pregnant women
  • public health
  • gene expression
  • quality improvement
  • low birth weight
  • loop mediated isothermal amplification
  • preterm infants
  • real time pcr
  • cord blood
  • preterm birth