Neurodevelopmental disorder associated with gene ARF3: A case report von Santos Henrique, Suelen, França, Mariana Jordão, Silva Junior, Rui Carlos, Santos, Mara Lúcia Schmitz Ferreira, Valle, Daniel Almeida

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Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil von Valle, Daniel Almeida do, Santos, Mara Lúcia Schmitz Ferreira, Telles, Bruno Augusto, Cordeiro, Mara L.

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Functional results after carpal tunnel release in mucopolysaccharidosis von Giostri, Giana Silveira, Arantes Souza, Camila Deneka, Nagai, Alencar Kenji, Schmitz Ferreira Santos, Mara Lucia, Pacheco Sampaio Neto, Jose Silvany, Joao de Masi Nassif, Flavia David

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Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies von do Valle, Daniel Almeida, Bara, Tiago Dos Santos, Furlin, Vanessa, Santos, Mara Lúcia Schmitz Ferreira, Cordeiro, Mara L

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Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1: A Case Report von do Valle, Daniel Almeida, Santos, Mara Lucia Schmitz Ferreira, Zeny, Michelle Silva, Cordeiro, Mara L.

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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America von Giugliani, Roberto, Villarreal, Martha Luz Solano, Valdez, C Araceli Arellano, Hawilou, Antonieta Mahfoud, Guelbert, Norberto, Garzón, Luz Norela Correa, Martins, Ana Maria, Acosta, Angelina, Cabello, Juan Francisco, Lemes, Aída, Santos, Mara Lucia Schmitz Ferreira, Amartino, Hernán

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MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW von Irigonhê, Alan Tibério Dalpiaz, Moreira, Angélica Malman Thomazine, Valle, Daniel Almeida do, Santos, Mara Lúcia Schmitz Ferreira

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X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES von Furlan, Fernanda Luiza Schumacher, Lemes, Macleise Andres, Suguimatsu, Ligia Cecilia Fuverki, Pires, Carolina Teixeira Furquim, Santos, Mara Lucia Schmitz Ferreira

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Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America von Zeny, Michelle Silva, do Valle, Daniel Almeida, Santos, Mara Lúcia Schmitz Ferreira, Bara, Tiago S., Cordeiro, Mara L.

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Continuous Unilateral Eye Blinking Related to Cerebellar Epilepsy in a Neonate von Corrêa de Almeida Teixeira, Bernardo, Grochoski, Rafaela, Mattozo, Carlos Alberto, Queiroz Telles, Gilliatt Hauer, Martins Filho, Raul, Schmitz Ferreira Santos, Mara Lucia

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Enzyme Replacement Therapy Decreases Left Ventricular Mass Index in Patients with Hunter Syndrome? von do Valle, Daniel Almeida, Cirino, Raphael Henrique Déa, Santos, Mara Lúcia Schmitz Ferreira, Pellissari, Eliana Costa, Scola, Rosana Herminia

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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity von Margutti, Ana Vitoria Barban, Silva, Wilson Araujo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vania Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, Joao, Santos, Emerson de Santana, Santos, Mara Lucia Schmitz Ferreira, Lourenco, Charles Marques, Tonon, Tassia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein, Camelo, Jose Simon

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Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants von Sampaio, Letícia Pereira de Brito, Henriques-Souza, Adélia Maria de Miranda, Silveira, Mariana Ribeiro Marcondes da, Seguti, Lisiane, Santos, Mara Lúcia Schmitz Ferreira, Montenegro, Maria Augusta, Antoniuk, Sérgio, Manreza, Maria Luíza Giraldes de

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Clinical variability of children with anti-N-methyl-d-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature von do Valle, Daniel Almeida, Galeazzi, Joselainy Stela Pires, Machado, Mayara de Rezende, dos Santos, Vanessa Catarine Silva Abreu Ribeiro, da Silva, Alcir Francisco, Lohr Júnior, Alfredo, Santos, Mara Lúcia Schmitz Ferreira, Scola, Rosana Herminia

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Clinical findings in Brazilian patients with adult GM1 gangliosidosis von Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto

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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype von Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto

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Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement von Giugliani, Roberto, de Siqueira, Ana Cecília Menezes, Santos, Emerson Santana, Leão, Emília Katiane E A, Carvalho, Gerson da Silva, Santos, Mara Lúcia Schmitz Ferreira, Raskin, Salmo, Martins, Ana Maria

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Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life von Carvalho-Neto, Arnolfo de, Ono, Sergio Eiji, Cardoso, Georgina de Melo, Santos, Mara Lucia Schmitz Ferreira, Celidonio, Izabela

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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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Completa recuperação pós-covid-19 grave em paciente com mucopolissacaridose tipo 2 von Yasmine Gorczevski Pigosso, Giovanna Zatelli Schreiner, Isabela Sech Emery Cade, Mara Lucia Schmitz Ferreira Santos, Paulo Ramos David João

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