Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, there is rob...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2015
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4626539/
https://ncbi.nlm.nih.gov/pubmed/25762406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9830-z
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