Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency
Bastos, Karina Lucio de Medeiros, Stephan, Bruno de Oliveira, Linnenkamp, Bianca Domit Werner, Costa, Larissa Athayde, Lima, Fabiana Roberto, Carvalho, Laura Machado Lara, Honjo, Rachel Sayuri, Tannuri, Uenis, Tannuri, Ana Cristina Aoun, Kim, Chong Ae
Published in International journal of molecular sciences (08.08.2024)
Published in International journal of molecular sciences (08.08.2024)
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Inoue, Yuta, Tsuchida, Naomi, Kim, Chong Ae, de Oliveira Stephan, Bruno, Castro, Matheus Augusto Araujo, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Uchiyama, Yuri, Hamanaka, Kohei, Fujita, Atsushi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Journal of human genetics (01.04.2024)
Published in Journal of human genetics (01.04.2024)
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Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa
Kelmann, Samantha Vernaschi, Stephan, Bruno de Oliveira, Barbosa, Silvia Maria de Macedo, Polastrini, Rita Tiziana Verardo, Oliveira, Zilda Najjar Prado de, Rivitti-Machado, Maria Cecília, Spolador, Gustavo Marquezani, Honjo, Rachel Sayuri, Saida, Ken, Matsumoto, Naomichi, Kim, Chong Ae
Published in Anais brasileiros de dermatología (01.05.2024)
Published in Anais brasileiros de dermatología (01.05.2024)
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Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II
Stephan, Bruno de Oliveira, Quaio, Caio Robledo, Spolador, Gustavo Marquezani, de Paula, Ana Carolina, Curiati, Marco Antônio, Martins, Ana Maria, Leal, Gabriela Nunes, Tenorio, Artur, Finzi, Simone, Chimelo, Flavia Teixeira, Matas, Carla Gentile, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae
Published in Clinics (São Paulo, Brazil) (01.01.2022)
Published in Clinics (São Paulo, Brazil) (01.01.2022)
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Câncer de mama: efeito prognóstico da resposta patológica completa após quimioterapia neoadjuvante
Vaisberg, Victor Van, Vilas Boas, Mariana da Silva, Stephan, Bruno de Oliveira, Matutino, Adriana Reis Brandão, Lima, Julianne Maria da Silva, Mano, Max Senna
Published in Revista de medicina (São Paulo, Brazil) (24.10.2015)
Published in Revista de medicina (São Paulo, Brazil) (24.10.2015)
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