Neurodevelopmental disorder associated with gene ARF3: A case report
Santos Henrique, Suelen, França, Mariana Jordão, Silva Junior, Rui Carlos, Santos, Mara Lúcia Schmitz Ferreira, Valle, Daniel Almeida
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
Valle, Daniel Almeida do, Santos, Mara Lúcia Schmitz Ferreira, Telles, Bruno Augusto, Cordeiro, Mara L.
Published in Frontiers in neurology (17.11.2022)
Published in Frontiers in neurology (17.11.2022)
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Journal Article
Functional results after carpal tunnel release in mucopolysaccharidosis
Giostri, Giana Silveira, Souza, Camila Deneka Arantes, Nagai, Alencar Kenji, Santos, Mara Lucia Schmitz Ferreira, Sampaio, José Silvany Pacheco, de Masi Nassif, Flavia David João
Published in Orphanet journal of rare diseases (09.09.2021)
Published in Orphanet journal of rare diseases (09.09.2021)
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Journal Article
MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
Irigonhê, Alan Tibério Dalpiaz, Moreira, Angélica Malman Thomazine, Valle, Daniel Almeida do, Santos, Mara Lúcia Schmitz Ferreira
Published in Revista Paulista de Pediatria (01.01.2021)
Published in Revista Paulista de Pediatria (01.01.2021)
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Journal Article
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
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
Published in Genetics and molecular biology (01.06.2014)
Published in Genetics and molecular biology (01.06.2014)
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Journal Article
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
Furlan, Fernanda Luiza Schumacher, Lemes, Macleise Andres, Suguimatsu, Ligia Cecilia Fuverki, Pires, Carolina Teixeira Furquim, Santos, Mara Lucia Schmitz Ferreira
Published in Revista Paulista de Pediatria (01.01.2019)
Published in Revista Paulista de Pediatria (01.01.2019)
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Journal Article
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil
Santos, Berkmis Viana, de Souza, Josiane, Zeny, Michelle Silva, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida
Published in Neuropediatrics (01.10.2024)
Published in Neuropediatrics (01.10.2024)
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Journal Article
Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America
Zeny, Michelle Silva, do Valle, Daniel Almeida, Santos, Mara Lúcia Schmitz Ferreira, Bara, Tiago S., Cordeiro, Mara L.
Published in Pediatric neurology (01.05.2024)
Published in Pediatric neurology (01.05.2024)
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Journal Article
Continuous Unilateral Eye Blinking Related to Cerebellar Epilepsy in a Neonate
Corrêa de Almeida Teixeira, Bernardo, Grochoski, Rafaela, Mattozo, Carlos Alberto, Queiroz Telles, Gilliatt Hauer, Martins Filho, Raul, Schmitz Ferreira Santos, Mara Lucia
Published in Neurology (07.12.2021)
Published in Neurology (07.12.2021)
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Journal Article
Enzyme Replacement Therapy Decreases Left Ventricular Mass Index in Patients with Hunter Syndrome?
do Valle, Daniel Almeida, Cirino, Raphael Henrique Déa, Santos, Mara Lúcia Schmitz Ferreira, Pellissari, Eliana Costa, Scola, Rosana Herminia
Published in Pediatric cardiology (01.02.2020)
Published in Pediatric cardiology (01.02.2020)
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Journal Article
Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants
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
Published in Arquivos de neuro-psiquiatria (01.09.2023)
Published in Arquivos de neuro-psiquiatria (01.09.2023)
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Journal Article
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Published in Orphanet journal of rare diseases (01.11.2020)
Published in Orphanet journal of rare diseases (01.11.2020)
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Journal Article
Clinical variability of children with anti-N-methyl-d-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature
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
Published in Neurological sciences (01.02.2019)
Published in Neurological sciences (01.02.2019)
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Journal Article
Clinical findings in Brazilian patients with adult GM1 gangliosidosis
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
Published in JIMD reports (01.09.2019)
Published in JIMD reports (01.09.2019)
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Journal Article
Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype
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
Published in JIMD reports (01.07.2021)
Published in JIMD reports (01.07.2021)
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Journal Article
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life
Carvalho-Neto, Arnolfo de, Ono, Sergio Eiji, Cardoso, Georgina de Melo, Santos, Mara Lucia Schmitz Ferreira, Celidonio, Izabela
Published in Arquivos de neuro-psiquiatria (01.06.2009)
Published in Arquivos de neuro-psiquiatria (01.06.2009)
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Journal Article
Audiologic Evaluation of Patients with Mucopolysaccharidosis at a Pediatric Hospital
Gomes, Ariana Braga, Pereira, Rodrigo Guimarães, Vassoler, Tríssia Maria Farah, Alcantara, Lauro João Lobo, Zimmermann, Elise, Santos, Mara Lúcia Schmitz Ferreira
Published in International Archives of Otorhinolaryngology (01.04.2011)
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Published in International Archives of Otorhinolaryngology (01.04.2011)
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