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List of works by Ana Carolina Brusius-Facchin

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

scientific article published on 21 May 2013

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

scientific article published on 11 April 2019

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

article

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