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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263201/
https://www.ncbi.nlm.nih.gov/pubmed/32478793
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263201/
https://www.ncbi.nlm.nih.gov/pubmed/32478793
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0334

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