Draft genome sequence of a GES-5-producing Serratia marcescens isolated in southern Brazil

by Carolina Silva Nodari, Marina Siebert, Ursula da Silveira Matte, Afonso Luís Barth

Assessment of cellular cobalamin metabolism in Gaucher disease

by Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
Published 2020-01-01

Contribuição da análise molecular do gene regulador da condutância transmembrana na fibrose cística na investigação diagnóstica de pacientes com suspeita de fibrose cística leve ou...

by Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin
Published 2013-04-01

[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

by Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

by Laís Alves Jacinto-Scudeiro, Gustavo Dariva Machado, Annelise Ayres, Daniela Burguêz, Marcia Polese-Bonato, Carelis González-Salazar, Marina Siebert, Marina Siebert, Marcondes Cavalcante França Jr., Maira Rozenfeld Olchik, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute
Published 2019-05-01

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

by Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz
Published 2016-03-01

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

by Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
Published 2019-04-01

Hampered Vitamin B12 Metabolism in Gaucher Disease?

by Luciana Hannibal PhD, Marina Siebert PhD, Suélen Basgalupp MSc, Filippo Vario MD, PhD, Ute Spiekerkoetter MD, Henk J. Blom PhD
Published 2017-02-01

[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in silico Predictors and Variant Annotation Databases

by Marcus Michels, Ursula Matte, Lucas Rosa Fraga, Aline Castello Branco Mancuso, Rodrigo Ligabue-Braun, Elias Figueroa Rodrigues Berneira, Marina Siebert, Maria Teresa Vieira Sanseverino

Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1

by Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto e Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Doederlein Schwartz, Carlos Thadeu Schmidt Cerski
Published 2021-08-01

Urinary soluble VCAM-1 is a useful biomarker of disease activity and treatment response in lupus nephritis

by Andrese Aline Gasparin, Nicole Pamplona Bueno de Andrade, Vanessa Hax, Penélope Esther Palominos, Marina Siebert, Romulo Marx, Pedro Guilherme Schaefer, Francisco Veríssimo Veronese, Odirlei André Monticielo
Published 2020-12-01

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

by Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto e Vairo, Marina Siebert, Kristiane Michelin-Tirelli, Ida Vanessa Doederlein Schwartz
Published 2019-12-01

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

by Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz
Published 2019-05-01

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

by Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Published 2019-04-01

Liver involvement in patients with Gaucher disease types I and III

by Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Alícia Dorneles Dornelles, Suélen Porto Basgalupp, Marina Siebert, Maria Lúcia Alves Pedroso, Carlos Thadeu Schmidt Cerski, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz
Published 2020-03-01

Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country

by Tiago F. Andreis, Bruno S. Correa, Fernanda S. Vianna, Fernanda De-Paris, Marina Siebert, Sandra Leistner-Segal, Eriza C. Hahn, Jane M. Ulbrich, Luis F.R. Rivero, Francine H. De Oliveira, Vinícius Lorandi, Patricia Ashton-Prolla, Gabriel S. Macedo
Published 2019-09-01

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

by Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky
Published 2016-07-01