Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 von Wilke, Matheus V M B, Dornelles, Alícia D, Schuh, Artur S, Vairo, Filippo P, Basgalupp, Suelen P, Siebert, Marina, Nalin, Tatiele, Piltcher, Otavio B, Schwartz, Ida V D

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A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia von Monteiro, Vaneisse C L, de Oliveira, Bibiana M, Dos Santos, Bruna B, Sperb-Ludwig, Fernanda, Refosco, Lilia F, Nalin, Tatiele, Derks, Terry G J, Moura de Souza, Carolina F, Schwartz, Ida V D

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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients von Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E, S Carvalho, Maria R, S Fonseca, Pablo A, S Camelo, Jr, José, M Ribeiro, Erlane, F V de Medeiros, Paula, M Lourenço, Charles, F M de Souza, Carolina, Boy, Raquel, Félix, Têmis M, M Bittar, Camila, L C Pinto, Louise, C Neto, Eurico, J Blom, Henk, D Schwartz, Ida V

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Gender, Race and Parenthood Impact Academic Productivity During the COVID-19 Pandemic: From Survey to Action von Staniscuaski, Fernanda, Kmetzsch, Livia, Soletti, Rossana C., Reichert, Fernanda, Zandonà, Eugenia, Ludwig, Zelia M. C., Lima, Eliade F., Neumann, Adriana, Schwartz, Ida V. D., Mello-Carpes, Pamela B., Tamajusuku, Alessandra S. K., Werneck, Fernanda P., Ricachenevsky, Felipe K., Infanger, Camila, Seixas, Adriana, Staats, Charley C., de Oliveira, Leticia

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AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet von Franceschetto, Bianca Fasolo, Orlandi, Júlia Montim, Rosa, Wanessa de Carvalho, Scortegagna, Mariana Lima, Farret, Lilia, Schwartz, Ida V D, Poloni, Soraia

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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies von Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souza, Carolina Fischinger Moura, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.

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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review von Pinto, Louise L C, Vieira, Taiane A, Giugliani, Roberto, Schwartz, Ida V D

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Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set von Bösch, Florin, Landolt, Markus A., Baumgartner, Matthias R., Zeltner, Nina, Kölker, Stefan, Gleich, Florian, Burlina, Alberto, Cazzorla, Chiara, Packman, Wendy, V. D. Schwartz, Ida, Neto, Eduardo, Ribeiro, Márcia G., Martinelli, Diego, Olivieri, Giorgia, Huemer, Martina

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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) von Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos

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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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Brain function in classic galactosemia, a galactosemia network (GalNet) members review von Panis, Bianca, Vos, E Naomi, Barić, Ivo, Bosch, Annet M, Brouwers, Martijn C G J, Burlina, Alberto, Cassiman, David, Coman, David J, Couce, María L, Das, Anibh M, Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D K, Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A, Scholl-Bürgi, Sabine, Schwartz, Ida V D, Sdogou, Triantafyllia, Shakerdi, Loai A, Skouma, Anastasia, Stepien, Karolina M, Treacy, Eileen P, Waisbren, Susan, Berry, Gerard T, Rubio-Gozalbo, M Estela

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DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy von Filippon, Letícia, Wayhs, Carlos A.Y., Atik, Diana M., Manfredini, Vanusa, Herber, Silvani, Carvalho, Clarissa G., Schwartz, Ida V.D., Giugliani, Roberto, Vargas, Carmen R.

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Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases von Weber Hoss, Giovana R., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D., Blom, Henk J.

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders von Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, Souza, Carolina F M de, Schwartz, Ida V D, Matte, Ursula, Giugliani, Roberto

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Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism? von Poloni, Soraia, Blom, Henk J, Schwartz, Ida V D

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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma von Westermann, Lena Marie, Fleischhauer, Lutz, Vogel, Jonas, Jenei-Lanzl, Zsuzsa, Ludwig, Nataniel Floriano, Schau, Lynn, Morellini, Fabio, Baranowsky, Anke, Yorgan, Timur A, Di Lorenzo, Giorgia, Schweizer, Michaela, de Souza Pinheiro, Bruna, Guarany, Nicole Ruas, Sperb-Ludwig, Fernanda, Visioli, Fernanda, Oliveira Silva, Thiago, Soul, Jamie, Hendrickx, Gretl, Wiegert, J Simon, Schwartz, Ida V D, Clausen-Schaumann, Hauke, Zaucke, Frank, Schinke, Thorsten, Pohl, Sandra, Danyukova, Tatyana

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Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism von Giugliani, Roberto, Vairo, Filippo P, Riegel, Mariluce, de Souza, Carolina F M, Schwartz, Ida V D, Pena, Sérgio D J

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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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Epidemiological aspects of hereditary fructose intolerance: A database study von Pinheiro, Franciele C., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D.

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Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma von Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V D

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