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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Vydáno v:Genet Mol Biol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Sociedade Brasileira de Genética 2020
Témata:
Human and Medical Genetics
On-line přístup: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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