Publications by authors named "Devora N Randon"

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Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon

Orphanet J Rare Dis· October 2023

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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Giorgia Di Lorenzo, Lena M Westermann, Timur A Yorgan, Julian Stürznickel, Nataniel F Ludwig, Dévora N Randon

Genet Med· December 2021

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SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.
Ida Vanessa Doederlein Schwartz, Dévora Natalia Randon, Natan Monsores, Carolina Fischinger Moura de Souza, Dafne Dain Gandelman Horovitz

Am J Med Genet C Semin Med Genet· September 2021

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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Dévora N Randon, Fernanda Sperb-Ludwig, Fernanda S L Vianna, Ana P P Becker, Carmen R Vargas

Genet Mol Biol· July 2020

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