Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, whi...

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Detalles Bibliográficos
Autores principales: Giugliani, Roberto, Federhen, Andressa, Michelin-Tirelli, Kristiane, Riegel, Mariluce, Burin, Maira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Special Series of Articles - 60 Years of The Brazilian Society of Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409780/
https://www.ncbi.nlm.nih.gov/pubmed/28304074
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409780/
https://www.ncbi.nlm.nih.gov/pubmed/28304074
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0268

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