Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers

por Martins, Ana Maria, Pessoa, Andre Luiz Santos, Quesada, Andrea Amaro, Ribeiro, Erlane Marques
Publicado 2020

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

por Pessoa, Andre Luiz Santos, Quesada, Andrea Amaro, Nóbrega, Paulo Ribeiro, Viana, Ana Priscila Oliveira, de Oliveira, Kécia Tavares, Figueiredo, Thalita, Santos, Silvana, Kok, Fernando
Publicado 2023

Answer – Abortion and Zika Virus Congenital Infection

por Mota, Vivian Maria Ribeiro, Delfino, Alanna dos Santos, Lopes, Thayse Elaine Costa Figueiredo, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Cavalcanti, Luciano Pamplona de Góes
Publicado 2018

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility

por Gomes, Gustavo Rodrigues Ferreira, Mariano, Tamiris Carneiro, Braga, Vitor Lucas Lopes, Ribeiro, Erlane Marques, Guimarães, Ingred Pimentel, Pereira, Késia Sindy Alves Ferreira, Nóbrega, Paulo Ribeiro, Pessoa, André Luiz Santos
Publicado 2023

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

por Samogy-Costa, Claudia Ismania, Varella-Branco, Elisa, Monfardini, Frederico, Ferraz, Helen, Fock, Rodrigo Ambrósio, Barbosa, Ricardo Henrique Almeida, Pessoa, André Luiz Santos, Perez, Ana Beatriz Alvarez, Lourenço, Naila, Vibranovski, Maria, Krepischi, Ana, Rosenberg, Carla, Passos-Bueno, Maria Rita
Publicado 2019

Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments

por Braga, Vitor Lucas Lopes, Lima, Danielle Pessoa, Mariano, Tamiris Carneiro, Lima, Pedro Lucas Grangeiro de Sá Barreto, Maia, Ana Beatriz de Almeida, da Silva Meireles, Wallace William, de Oliveira Pessoa, Kécia Tavares, de Oliveira, Cristiane Mattos, Ribeiro, Erlane Marques, Nóbrega, Paulo Ribeiro, Pessoa, André Luiz Santos
Publicado 2023

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

por Nóbrega, Paulo Ribeiro, Bernardes, Anderson Moura, Ribeiro, Rodrigo Mariano, Vasconcelos, Sophia Costa, Araújo, David Augusto Batista Sá, Gama, Vitor Carneiro de Vasconcelos, Fussiger, Helena, Santos, Carolina de Figueiredo, Dias, Daniel Aguiar, Pessoa, André Luíz Santos, Pinto, Wladimir Bocca Vieira de Rezende, Saute, Jonas Alex Morales, de Souza, Paulo Victor Sgobbi, Braga-Neto, Pedro
Publicado 2022

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

por Mendonça, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Publicado 2020