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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Genética 2020
Fag:
Human and Medical Genetics
Online adgang: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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