Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Carolina Araújo Moreno"'
Autor:
Adriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, Carolina Araújo Moreno, Roberto Giugliani, Cecília Amélia Fazzio Escanhoela
Publikováno v:
Revista Paulista de Pediatria, Iss 0 (2017)
RESUMO Objetivo: Descrever a doença de depósito de ésteres de colesterol (DDEC) e a importância da biópsia hepática na realização do diagnóstico. Descrição do caso: Paciente feminina, dois anos e dez meses de idade, com queixa de aumento d
Externí odkaz:
https://doaj.org/article/ff80c9167a2b487096ebb84debf61318
Autor:
Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, Joao Bosco de Oliveira Filho
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Gene
Externí odkaz:
https://doaj.org/article/0c95d03f938a4487814f7372787d1492
Autor:
Adriana Maria Alves De, Tommaso, Flávia Fonseca de Carvalho, Barra, Gabriel, Hessel, Carolina Araújo, Moreno, Roberto, Giugliani, Cecília Amélia Fazzio, Escanhoela
Publikováno v:
Revista Paulista de Pediatria
To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis.A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four mont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf255ad492450cd3def4994c790919f7
https://pubmed.ncbi.nlm.nih.gov/29091130
https://pubmed.ncbi.nlm.nih.gov/29091130
Autor:
Caio Robledo D’ Angioli Costa Quaio, Antonio Victor Campos Coelho, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Kelin Chen, Jose Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Bruna Mascaro Cordeiro de Azevedo, Maria Soares Nobrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Lima, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Marina de França, Murilo Castro Cervato, Tatiana Ferreira de Almeida, Joao Bosco de Oliveira Filho
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by he
Externí odkaz:
https://doaj.org/article/a725ec5d20214dbdb3f344e4e8fcf56f
Autor:
Fabio Bucaretchi, Carla Borrasca Fernandes, Maira Migliari Branco, Eduardo Mello De Capitani, Stephen Hyslop, Jamil Pedro S. Caldas, Carolina Araujo Moreno, Gilda Porta
Publikováno v:
Revista Paulista de Pediatria, Vol 32, Iss 1, Pp 144-148 (2014)
Objective: Severe hepatotoxicity caused by paracetamol is rare in neonates. We report a case of paracetamol-induced acute liver failure in a term neonate. Case description: A 26-day-old boy was admitted with intestinal bleeding, shock signs, slight l
Externí odkaz:
https://doaj.org/article/16a60e4539b449578d6edc302d97c86e