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1. In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
Sperb-Ludwig, Fernanda ORCID ; Ludwig, Nataniel Floriano ORCID ; Rizowy, Gustavo Mottin ORCID ; Velho, Renata Voltolini ORCID ; Schwartz, Ida Vanessa Doederlein ORCID .
Genetics and Molecular Biology 2023, Volume 46 N. 3 elocation e20230117
https://doi.org/10.1590/1678-4685-gmb-2023-0117
2. Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
Silva, Gerda Cristal Villalba ORCID ; Borsatto, Taciane ORCID ; Schwartz, Ida Vanessa Doederlein ORCID ; Sperb-Ludwig, Fernanda ORCID .
Genetics and Molecular Biology 2022, Volume 45 N. 1 elocation e20200432
https://doi.org/10.1590/1678-4685-gmb-2020-0432
3. A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
Ludwig, Nataniel F ORCID ; Sperb-Ludwig, Fernanda ORCID ; Randon, Dévora N ORCID ; Bernardi, Pricila ORCID ; Giuliani, Liane R ORCID ; Moreno, Carolina A ORCID ; Cavalcanti, Denise P ORCID ; Silva, Luiz CS da ORCID ; Schwartz, Ida V D ORCID .
Journal of Inborn Errors of Metabolism and Screening 2021, Volume 9 elocation e20200029
https://doi.org/10.1590/2326-4594-jiems-2020-0029 225 downloads
4. The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
Pinheiro, Franciele Cabral ORCID ; Ligabue-Braun, Rodrigo ORCID ; Siqueira, Ana Cecília Menezes de ORCID ; Matuella, Camila ORCID ; Souza, Carolina Fischinger Moura de ORCID ; Monteiro, Fabíola Paoli ORCID ; Kok, Fernando ORCID ; Schwartz, Ida Vanessa Doederlein ORCID ; Sperb-Ludwig, Fernanda ORCID .
Genetics and Molecular Biology 2021, Volume 44 N. 2 elocation e20200281
https://doi.org/10.1590/1678-4685-gmb-2020-0281 308 downloads
5. 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
Randon, Dévora N. ORCID ; Sperb-Ludwig, Fernanda ORCID ; Vianna, Fernanda S. L. ORCID ; Becker, Ana P. P. ORCID ; Vargas, Carmen R. ORCID ; Sitta, Angela ORCID ; Sant’Ana, Alexia N. ORCID ; Schwartz, Ida V. D. ORCID ; Bitencourt, Fernanda H. de ORCID .
Genetics and Molecular Biology 2020, Volume 43 N. 3 elocation 20190298
https://doi.org/10.1590/1678-4685-gmb-2019-0298 803 downloads
6. Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
Sperb-Ludwig, Fernanda ORCID ; Alegra, Taciane ORCID ; Velho, Renata Voltolini ORCID ; Ludwig, Nataniel ORCID ; Siebert, Marina ORCID ; Jobim, Mariana ORCID ; Vairo, Filippo ORCID ; Schwartz, Ida V. D. ORCID .
Genetics and Molecular Biology sep 2019, Volume 42 N. 3 Pages 571 - 573
https://doi.org/10.1590/1678-4685-gmb-2018-0246 589 downloads
7. Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
Poloni, Soraia ORCID ; Hoss, Giovana W. ORCID ; Sperb-Ludwig, Fernanda ORCID ; Borsatto, Taciane ORCID ; Doriqui, Maria Juliana R. ORCID ; Leão, Emília K.E.A ORCID ; Boa-Sorte, Ney ORCID ; Lourenço, Charles M. ORCID ; Kim, Chong A. ORCID ; Souza, Carolina F. M. de ORCID ; Rocha, Helio ORCID ; Ribeiro, Marcia ORCID ; Steiner, Carlos E. ORCID ; Moreno, Carolina A. ORCID ; Bernardi, Pricila ORCID ; Valadares, Eugenia ORCID ; Artigalas, Osvaldo ORCID ; Carvalho, Gerson ORCID ; Wanderley, Hector Y. C. ORCID ; D’Almeida, Vânia ORCID ; Santana-da-Silva, Luiz C. ORCID ; Blom, Henk J. ORCID ; Schwartz, Ida V. D. ORCID .
Journal of Inborn Errors of Metabolism and Screening 2018, Volume 6 elocation e180007
https://doi.org/10.1177/2326409818788900 1352 downloads
8. New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals
VELHO, RENATA V. ORCID ; SPERB-LUDWIG, FERNANDA ORCID ; SCHWARTZ, IDA V.D. ORCID .
Anais da Academia Brasileira de Ciências aug 2015, Volume 87 N. 2 Pages 1375 - 1388
https://doi.org/10.1590/0001-3765201520140711 4124 downloads
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