Zobrazeno 1 - 10
of 13
pro vyhledávání: '"André Luíz Santos Pessoa"'
Autor:
Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially trea
Externí odkaz:
https://doaj.org/article/0efb18fac58149eaa7184750e1d73b5b
Autor:
Vitor Lucas Lopes Braga, Danielle Pessoa Lima, Tamiris Carneiro Mariano, Pedro Lucas Grangeiro de Sá Barreto Lima, Ana Beatriz de Almeida Maia, Wallace William da Silva Meireles, Kécia Tavares de Oliveira Pessoa, Cristiane Mattos de Oliveira, Erlane Marques Ribeiro, Paulo Ribeiro Nóbrega, André Luiz Santos Pessoa
Publikováno v:
Brain Sciences, Vol 13, Iss 11, p 1521 (2023)
Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (D
Externí odkaz:
https://doaj.org/article/47234825f2e64c008d1432a7bfd905eb
Autor:
Gustavo Rodrigues Ferreira Gomes, Tamiris Carneiro Mariano, Vitor Lucas Lopes Braga, Erlane Marques Ribeiro, Ingred Pimentel Guimarães, Késia Sindy Alves Ferreira Pereira, Paulo Ribeiro Nóbrega, André Luiz Santos Pessoa
Publikováno v:
Brain Sciences, Vol 13, Iss 8, p 1184 (2023)
Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for
Externí odkaz:
https://doaj.org/article/b4fdb5db3d454a2da604e0e086f58236
Autor:
Andre Luiz Santos Pessoa, Andrea Amaro Quesada, Paulo Ribeiro Nóbrega, Ana Priscila Oliveira Viana, Kécia Tavares de Oliveira, Thalita Figueiredo, Silvana Santos, Fernando Kok
Publikováno v:
Brain Sciences, Vol 13, Iss 7, p 1048 (2023)
Biallelic loss of function of IMPA1 causes autosomal recessive intellectual developmental disorder 59 (MRT59, OMIM #617323). MRT59 has been reported to present with significant intellectual disability and disruptive behavior, but little is known abou
Externí odkaz:
https://doaj.org/article/4265ea3b3b6546539b3cb33b2f033ed2
Autor:
Antonio Gomes Lima Júnior, Nina Maia Pinheiro de Abreu, João Paulo Carmo Rodrigues, Marcus Vinícius Buratti Leal, Anielly Sampaio Clarindo, Andre Luiz Santos Pessoa, Laura Vitória Melo Gomes, Antonio Helder Costa Vasconcelos, Pablo Picasso de Araujo Coimbra
Publikováno v:
International Clinical Neuroscience Journal, Vol 8, Iss 4, Pp 205-207 (2021)
Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive neurodegenerative diseases that cause developmental delay and seizures. Herein, we present a case of a 7-year-old girl who referred for magnetic resonance imaging (MRI) follo
Externí odkaz:
https://doaj.org/article/c39fc67bc92d4758aaefc229c96d3ba8
Autor:
Larissa Loiola Batista, Noeme Moreira Andrade, Ana Paula Girão Lessa, Luana Elayne Cunha de Souza, Natália Macedo Cysne Costa, André Luiz Santos Pessoa, Erlane Marques Ribeiro, Luciano Pamplona de Goes Cavalcanti
Publikováno v:
Revista de Medicina da UFC, Vol 60, Iss 2, Pp 5-10 (2020)
Objetivo: descrever a situação socioeconômica das famílias de crianças com Síndrome Congênita pelo vírus Zika (SCZ) atendidas em Fortaleza-CE e o acesso destas às políticas sociais. Métodos: estudo descritivo realizado com mães de crianç
Externí odkaz:
https://doaj.org/article/00ead4a454f3480abde78603f87f6789
Autor:
Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg, Maria Rita Passos-Bueno
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities cause
Externí odkaz:
https://doaj.org/article/6463af4c6f2d464db58d55a786a44c1c
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100624- (2020)
Background: Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism
Externí odkaz:
https://doaj.org/article/3dc7999c255c406cb7e5cdbc9a5ab797
Autor:
Vivian Maria Ribeiro Mota, Luciano Pamplona de Góes Cavalcanti, Alanna dos Santos Delfino, Thayse Elaine Costa Figueiredo Lopes, André Luiz Santos Pessoa, Erlane Marques Ribeiro
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 40, Iss 7, Pp 417-424 (2018)
Abstract The emergency in international public health caused by the Zika virus gave rise to the discussion about abortion in cases of congenital Zika virus syndrome (CZS). Therefore, we propose to carry out a bibliographic review on abortion in these
Externí odkaz:
https://doaj.org/article/368712cdd3ec45f1bd852b63630524e6
Autor:
Rebeka Ferreira Pequeno Leite, Marinisi Sales Aragão Santos, Erlane Marques Ribeiro, André Luiz Santos Pessoa, Doris Ruthy Lewis, Célia Maria Giacheti, Luciano Pamplona de Góes Cavalcanti
Publikováno v:
Epidemiologia e Serviços de Saúde, Vol 27, Iss 4 (2018)
Resumo Objetivo: descrever resultados da triagem auditiva em crianças com síndrome congênita pelo vírus Zika (SCZ) atendidas em Fortaleza, Ceará, Brasil. Métodos: estudo transversal descritivo envolvendo crianças com SCZ atendidas durante o II
Externí odkaz:
https://doaj.org/article/077d999dd07e4eff8f1f1ede0be0fb68