Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Matheus Augusto Araújo Castro"'
Autor:
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological
Externí odkaz:
https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646
Autor:
Matheus Augusto Araújo Castro, Pedro Henrique Almeida Fraiman, Clecio de Oliveira Godeiro-Junior
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 77, Iss 8, Pp 594-594
Externí odkaz:
https://doaj.org/article/a9cb758a23e34f49a843571f0ee00b35
Autor:
Paulo Ribeiro Nóbrega, Matheus Augusto Araújo Castro, Anderson Rodrigues Brandão de Paiva, Fernando Kok
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(12)
Autor:
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araújo Castro, Deborah Bartholdi, André Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y Utagawa, Carlos E Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphaël Abourjaili-Bilodeau, Philippe M Campeau, Matthew Warman, Maria Rita Passos-Bueno, Nicolas C Hoch, Debora Romeo Bertola
Publikováno v:
Journal of Medical Genetics. :jmg-2022
Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants inANAPC1and juvenile cataracts, and type II, with biallel
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 77, Iss 8, Pp 594-594