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 von Wilke, Matheus Vernet Machado Bressan, Poswar, Fabiano, Borelli, Wyllians Vendramini, Michelin Tirelli, Kristiane, Randon, Dévora Natalia, Lopes, Franciele Fátima, Pasetto, Fernanda Bender, Sebastião, Fernanda Medeiros, Iop, Gabrielle Dineck, Faqueti, Larissa, da Silva, Layzon Antonio, Kubaski, Francyne, Schuh, Artur Francisco Schumacher, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

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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 I... von Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra

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A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients von Ludwig, Nataniel F, Sperb-Ludwig, Fernanda, Randon, Dévora N, Bernardi, Pricila, Giuliani, Liane R, Moreno, Carolina A, Cavalcanti, Denise P, Silva, Luiz CS da, Schwartz, Ida V D

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A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Bio... von Vernet Machado Bressan Wilke, Matheus, Iop, Gabrielle Dineck, Faqueti, Larissa, Lemos da Silva, Layzon Antonio, Kubaski, Francyne, Poswar, Fabiano O, Michelin-Tirelli, Kristiane, Randon, Dévora, Borelli, Wyllians Vendramini, Giugliani, Roberto, Schwartz, Ida Vanessa D

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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 sou... von Randon, Dévora N, Sperb-Ludwig, Fernanda, Vianna, Fernanda S L, Becker, Ana P P, Vargas, Carmen R, Sitta, Angela, Sant'Ana, Alexia N, Schwartz, Ida V D, Bitencourt, Fernanda H de

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Mortality profile in a cohort of patients with Gaucher disease from Rio Grande do Sul, Brazil (2003−2023) von Teixeira, Lucas Ferreira, Poswar, Fabiano, Randon, Dévora N., Schwartz, Ida Vanessa D.

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Metab-Latam: Sharing scientific knowledge about lysosomal disorders in Latin America von Schwartz, Ida Vanessa D., Martínez Bazán, Eliana M., Randon, Dévora N., Fink, Isabela A., Azambuja, Fernando S., Alberti, Arthur M.

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GENOME SEQUENCING FOR PATIENTS WITH SUSPECTED INHERITED METABOLIC DISEASES IN BRAZIL von Schwartz, Ida Vanessa Doederlein, Silva, Thiago Oliveira, Poswar, Fabiano, de Souza, Carolina Moura, Bosco, João, Randon, Dévora, Vairo, Filippo

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METAB-LATAM: SHARING OF SCIENTIFIC KNOWLEDGE IN INBORN ERRORS OF METABOLISM von Bazán, Eliana Martínez, de Andrade, Andrei Meurer, Rigo, Patricia Ribeiro, Randon, Dévora, Silva, Thiago Oliveira, Schwartz, Ida

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Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil von dos Santos, Mariana Lopes, Randon, Dévora Natalia, de Bitencourt, Fernanda Hendges, Sperb-Ludwig, Fernanda, Vianna, Fernanda Sales Luiz, Vargas, Carmen Regla, Sitta, Angela, Schwartz, Ida Vanessa Doederlein

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COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective von Schwartz, Ida V.D., Randon, Dévora N., Ferraro, Lethicia C., de Souza, Carolina F.M., Horovitz, Dafne D.G., de Sá, Natan M., Brunoni, Decio

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Mortality profile in a cohort of patients with Gaucher disease from Rio Grande Do Sul, Brazil (2003–2023) von Teixeira, Lucas, Randon, Devora, Poswar, Fabiano, Schwartz, Ida Vanessa Doederlein

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Aislamiento y caracterización morfológica y molecular de cepas de Escovopsis aisladas de nidos de hormigas cortadoras de hojas de Argentina von Bich, Gustavo Ángel, Randon, Devora Natalia, Castrillo, María Lorena, Villalba, Laura Lidia, Zapata, Pedro Darío

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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 sou... von Dévora N. Randon, Sperb-Ludwig, Fernanda, Vianna, Fernanda S. L., Becker, Ana P. P., Vargas, Carmen R., Sitta, Angela, Sant’Ana, Alexia N., Schwartz, Ida V. D., Bitencourt, Fernanda H. De

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