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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發表在: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
格式: Artigo
語言:Inglês
出版: Sociedade Brasileira de Genética 2020
主題:
Human and Medical Genetics
在線閱讀: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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