Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With t...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono, Régis, Trapp, Franciele Barbosa, Michelin-Tirelli, Kristiane, Souza, Carolina F.M., Rojas Málaga, Diana, Pasqualim, Gabriela, Brusius-Facchin, Ana Carolina, Giugliani, Roberto
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498414/
https://ncbi.nlm.nih.gov/pubmed/28721335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.06.006
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