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Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Victoria Faustino Silva Reis | Bruna Freitas Souza | Murilo Lopes Coelho | Samantha Lopes Oliveira | Iana Maciel Silva Souza | Sâmara Pinto Vasconcelos | Juliana Silva Almeida Magalhães | Julia Monteiro Barros Pereira Carvalho | Camilo Vieira Santos

Case report: central nervous system vasculitis due to COVID-19

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Matheus de Souza Rosa | Rodrigo Santana Arruda | Alicia Carolina Coraspe Gonçalves | Guilherme Cordaro Bucker Furini | Daniela Fernanda de Almeida Santos | Laila Prazeres Schulz Moreira | Amanda Póvoa Paiva | Maria Avanise Yumi Minami | Ana Paula Andrade Hamad

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Amanda Regina Farias Teixeira | Flavia Nardes dos Santos | Marlos Melo Martins | Maria Lina Giacomino de Almeida Passos | Hanid Gomes Fontes | Caroline Scantamburlo Martins | Sofia Russi | Jessica Kayene Souza Ferreira | Lana Correa Paschoal

Use of carglumic acid in propionic acidemia: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Renan Guimarães Santana | Ana Cristina Nascimento Dias Carneiro | Nathália Jamille Moreira Nascimento David | Thais de Almeida Fonseca Oliveira | Laura Maria Silva Thiersch | Fernando Nascimento Dias Carneiro | André Vinicius Soares Barbosa | Ana Carolina Cardoso Diniz | Bruna Ribeiro Torres

Lafora disease and metformin therapy: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Cristina Detoni Trentin | Nicole Zanardo Tagliari | Laurize Palma Hendges Zanette | Felipe Kalil Neto | Alessandra Marques dos Anjos | Osvaldo Artigalás | Silvana Palmeiro Marcantônio | João Ronaldo Mafalda Krauzer

Central nervous system juvenile xantogranuloma: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Ana Clarice Bartosievicz Prestes | Sergio Antonio Antoniuk | Mara Lucia Schmitz Ferreira Santos | Adriano Kejiro Maeda | Ana Paula Kuczynski Pedro Bom | Victor Horácio de Souza Costa Junior

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Melanie Scarlet Diaz Solano | Mariane Wehmut | Clarice Prestes | Isadora Cristina Barbosa Lopes | Carolina Oliveira de Paulo | José Antonio Coba Lacle | Eduarda Furstenberger | Danuta Iatchuk Gomes

Epileptic encephalopathy due to GLUT1 deficiency: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Mariana Reis Caram | Marcelo Vitória Reinehr | Emanuele Fonseca Barbosa | Luize Costa Soncini | Maria Helena Romano Santin | Ísis Feldens Müller | Juliana Costa Maia | Luiza Vieira da Silva Magalhães | Cláudia Fernandes Lorea

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Laila Prazeres Schulz Moreira | Isabela Bartholomeu Ferreira da Costa | Bruna Ramos Velani | Maria Avanise Yumi Minami | Carla Andrea Cardoso Tanuri Caldas | Maiave Micaelle Figueiredo de Matos | Rafaela Pichini de Oliveira | Vitor Tumas | Ana Paula Andrade Hamad

4H leucodystrophy phenotypical variation among two brothers: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Rui Carlos Silva Júnior | Giulia Vilela Silva | Izabela Cristina Macedo Marques | Lorena Vilela Rezende | Mariah Pereira de Andrade Vallim | Lisandra Coneglian de Farias Rigoldi | Elisabete Coelho Auersvald | Daniel Almeida do Valle | Michelle Silva Zeny

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Nicholas dos Santos Barros | José Albino da Paz | Clarice Semião Coimbra | Suely Fazio Ferraciolli | Roberta Diniz de Almeida | Ana Cristina Azevedo Leão | Rafaela Fernandes Dantas | Renata Keiko Watanabe | Gabriel Frizzo Ramos

A case report of neonatal PURA syndrome

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Letícia Pugim Ferreira | Ana Chrystina Souza Crippa | Liara Bohnert | Maytza Mayndra Côrrea

Pearson's syndrome: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Lorena Vilela Rezende | Julia Vilela Rezende | Michelle Silva Zeny | Rui Carlos Silva Júnior | Giulia Vilela Silva | Mariah Pereira de Andrade Vallim | Elisabete Coelho Auersvald | Mara Lucia Schmitz Ferreira Santos

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Jéssica Kayene Souza Ferreira | Hanid Fontes Gomes | Marlos Melo Martins | Maria Lina Giacomino de Almeida Passos e Azevedo | Amanda Regina Farias Teixeira | Sofia Russi | Lana Correa Paschoal | Caroline Scantamburlo Martins

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Isabelle Salgado Castellano | Maria Luiza Benevides | Paula Thaís Bandeira Elias | Fernanda Ferrão Antônio | Larisse Souza de Morais Sommavilla | Ana Carolina Piauilino Santos Falcão | Karine Couto Sarmento Teixeira | Kátia Maria Ribeiro da Silva Schmutzler | Ana Carolina Coan

Tay-Sachs disease with atypical evolution: case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Iris do Vale Miranda | Helen Ramos Vasconcelos | Michelle Basso Couto Gouvêa | Paula Luísa Lopes Schell | Ana Carolina Jorge Fogolin | Isadora Cavalcante Olimpio de Melo | Laís Russo Carneiro Peruzzi | Paulo Breinis

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Laura Maria Silva Thiersch | Leonardo Mendonça Monteiro de Castro | Thais de Almeida Fonseca Oliveira | Nathalia Jamille Moreira Nascimento David | Renan Guimarães Santana | Ana Cristina Nascimento Dias Carneiro | Ana Carolina Cardoso Diniz | Karina Soares Loutfi | Silvia Santiago Cordeiro

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Marcela Gonçalves de Souza | Debora Carinhato Thomaz | Luiza Oliveira Prata Silveira | Loiane Dante Correia Rocha | Eduardo Ferraz Troijo | Manuel Jacinto de Abreu Neto | Anna Carollina Eulalio Amorim Baratta | Pedro Zambusi Naufel

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Luize Costa Soncini | Maria Helena Romano Santin | Ísis Feldens Müller | Mariana Reis Caram | Marcelo Vitória Reinehr | Emanuele Fonseca Barbosa | Juliana Costa Maia | Luiza Vieira da Silva Magalhães | Claudia Fernandes Lorea

COL4A1-related disorders: a case report

PROCEEDINGS ARTICLE published September 2023 in SBN Conference 2022

Authors: Bruna Torres Homem Fonseca | Ana Luiza Almeida Carneiro | Tânia Saad | Ludimila Marins Almeida Moura | Aline Fonseca Lima | Alessandra Augusta Barroso Penna e Costa | Fernanda Veiga Góes | Marcela Rodrigues Freitas | Talys Jason Pinheiro