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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Mol Biol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sociedade Brasileira de Genética 2020
Pynciau:
Human and Medical Genetics
Mynediad Ar-lein: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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