Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestatio...

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Detalhes bibliográficos
Publicado no:Genet Mol Biol
Main Authors: Bender, Fernanda, Burin, Maira G., Tirelli, Kristiane M., Medeiros, Fernanda, de Bitencourt, Fernanda Hendges, Civallero, Gabriel, Kubaski, Francyne, Bravo, Heydy, Daher, Antoine, Carnier, Vanessa, Franco, José F. S., Giugliani, Roberto
Formato: Artigo
Idioma:Inglês
Publicado em: Sociedade Brasileira de Genética 2020
Assuntos:
Human and Medical Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7263201/
https://ncbi.nlm.nih.gov/pubmed/32478793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0334
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