Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
Giugliani, Roberto, Giugliani, Luciana, de Oliveira Poswar, Fabiano, Donis, Karina Carvalho, Corte, Amauri Dalla, Schmidt, Mathias, Boado, Ruben J, Nestrasil, Igor, Nguyen, Carol, Chen, Steven, Pardridge, William M
Published in Orphanet journal of rare diseases (05.07.2018)
Published in Orphanet journal of rare diseases (05.07.2018)
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Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
Hammerschmidt, Tatiane Grazieli, Encarnação, Marisa, Lamberty Faverzani, Jéssica, de Fátima Lopes, Franciele, Poswar de Oliveira, Fabiano, Fischinger Moura de Sousa, Carolina, Ribeiro, Isaura, Alves, Sandra, Giugliani, Roberto, Regla Vargas, Carmen
Published in Archives of biochemistry and biophysics (01.02.2023)
Published in Archives of biochemistry and biophysics (01.02.2023)
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Journal Article
Diagnosis of Mucopolysaccharidoses
Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto
Published in Diagnostics (Basel) (22.03.2020)
Published in Diagnostics (Basel) (22.03.2020)
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Journal Article
Mucopolysaccharidosis Type I
Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Matte, Ursula da Silveira, Horovitz, Dafne D, Barth, Anneliese Lopes, Baldo, Guilherme, Vairo, Filippo, Giugliani, Roberto
Published in Diagnostics (Basel) (16.03.2020)
Published in Diagnostics (Basel) (16.03.2020)
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Journal Article
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
Cardoso-dos-Santos, Augusto C., Oliveira Silva, Thiago, Silveira Faccini, Anderson, Woycinck Kowalski, Thayne, Bertoli-Avella, Aida, Morales Saute, Jonas A., Schuler-Faccini, Lavinia, de Oliveira Poswar, Fabiano
Published in Molecular syndromology (01.02.2020)
Published in Molecular syndromology (01.02.2020)
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Journal Article
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
Saute, Jonas Alex Morales, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Donis, Karina Carvalho, Campos, Lillian Gonçalves, Deyl, Adriana Vanessa Santini, Burin, Maira Graeff, Vargas, Carmen Regla, Matte, Ursula da Silveira, Giugliani, Roberto, Saraiva-Pereira, Maria Luiza, Vedolin, Leonardo Modesti, Gregianin, Lauro José, Jardim, Laura Bannach
Published in Arquivos de neuro-psiquiatria (01.12.2016)
Published in Arquivos de neuro-psiquiatria (01.12.2016)
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Journal Article
Clinical trials for genetic diseases in Latin America
Poswar, Fabiano de Oliveira, Silva, Larissa Pozzebon, Zambrano, Marina Bauer, Pedrini, Diane Bressan, Saute, Jonas Alex Morales, Giugliani, Roberto
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review
Portich, Júlia Plentz, Ribeiro, Aline Sinhorelo, Rodrigues Taniguchi, Adriano Nori, Backes, Ariane, de Souza, Carolina Fischinger Moura, Kieling, Carlos Oscar, Scherer, Fernanda Fetter, de Oliveira Poswar, Fabiano, Leipnitiz, Ian, Doederlein Schwartz, Ida Vanessa, Sekine, Leo, Rigoni, Lisandra Della Costa, Marquardt da Silveira, Luciana, de Almeida Furlanetto, Marina, Adami, Marina Rossato, Breunig, Raquel Cristine, Guedes, Renata Rostirola, do Amaral, Sheila Nogueira, Gonçalves Vieira, Sandra Maria, de Brum Soares, Tahiane, Silva, Thiago Oliveira, da Rocha Silla, Lúcia Mariano, Astigarraga, Claudia Caceres, Paz, Alessandra Aparecida, Daudt, Liane Esteves
Published in Journal of pediatric hematology/oncology (01.10.2023)
Published in Journal of pediatric hematology/oncology (01.10.2023)
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Disease progression in Sanfilippo type B: Case series of Brazilian patients
Montenegro, Yorran Hardman Araújo, Kubaski, Francyne, Trapp, Franciele Barbosa, Riegel-Giugliani, Mariluce, Souza, Carolina Fischinger Moura de, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso-Dos-Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Vairo, Filippo Pinto E, Baldo, Guilherme, Giugliani, Roberto, Poswar, Fabiano de Oliveira
Published in Genetics and molecular biology (01.01.2024)
Published in Genetics and molecular biology (01.01.2024)
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Bioinformatics, Interaction Network Analysis, and Neural Networks to Characterize Gene Expression of Radicular Cyst and Periapical Granuloma
Poswar, Fabiano de Oliveira, MD, MS, Farias, Lucyana Conceição, DDS, PhD, Fraga, Carlos Alberto de Carvalho, DDS, PhD, Bambirra, Wilson, DDS, MD, Brito-Júnior, Manoel, DDS, PhD, Sousa-Neto, Manoel Damião, DDS, MD, PhD, Santos, Sérgio Henrique Souza, DDS, PhD, de Paula, Alfredo Maurício Batista, DDS, PhD, D'Angelo, Marcos Flávio Silveira Vasconcelos, PhD, Guimarães, André Luiz Sena, DDS, PhD
Published in Journal of endodontics (01.06.2015)
Published in Journal of endodontics (01.06.2015)
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Journal Article
Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy
Poswar, Fabiano de Oliveira, Santos, Hallana Souza, Santos, Angela Barreto Santiago, Berger, Solano Vinicius, de Souza, Carolina Fischinger Moura, Giugliani, Roberto, Baldo, Guilherme
Published in Frontiers in cardiovascular medicine (12.01.2022)
Published in Frontiers in cardiovascular medicine (12.01.2022)
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Journal Article
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis
de Lima Silva, Elis Vanessa, Donis, Karina Carvalho, Machado, Fabiana Rita Camara, Simão Medeiros, Leonardo, Aschoff, Carlos Alberto de Moura, de Souza, Carolina Fischinger Moura, Poswar, Fabiano de Oliveira, Saute, Jonas Alex Morales
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
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Journal Article
Cardiovascular findings in classic homocystinuria
Kalil, Marco Antônio Baptista, Donis, Karina Carvalho, Poswar, Fabiano de Oliveira, dos Santos, Bruna Bento, Santos, Ângela Barreto Santiago, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Journal Article
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
Melo, Adriana, de Carvalho, Luciana Martins, Ferriani, Virginia Paes Leme, Cavalcanti, André, Appenzeller, Simone, Oliveira, Valéria Rossato, Neto, Herberto Chong, Rosário, Nelson Augusto, de Oliveira Poswar, Fabiano, Guimaraes, Matheus Xavier, Kokron, Cristina Maria, Maia, Rayana Elias, Silva, Guilherme Diogo, Keller, Gabriel, Ferreira, Mauricio Domingues, Vasconcelos, Dewton Moraes, Toledo-Barros, Myrthes Anna Maragna, Barros, Samar Freschi, Neto, Nilton Salles Rosa, Krieger, Marta Helena, Kalil, Jorge, Mendonça, Leonardo Oliveira
Published in Advances in rheumatology (London, England) (22.05.2023)
Published in Advances in rheumatology (London, England) (22.05.2023)
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Journal Article
Lysosomal diseases: Overview on current diagnosis and treatment
Poswar, Fabiano de Oliveira, Vairo, Filippo, Burin, Maira, Michelin-Tirelli, Kristiane, Brusius-Facchin, Ana Carolina, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Baldo, Guilherme, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2019)
Published in Genetics and molecular biology (01.01.2019)
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Journal Article
Protein expression of MMP-2 and MT1-MMP in actinic keratosis, squamous cell carcinoma of the skin, and basal cell carcinoma
de Oliveira Poswar, Fabiano, de Carvalho Fraga, Carlos Alberto, Gomes, Emisael Stênio Batista, Farias, Lucyana Conceição, Souza, Linton Wallis Figueiredo, Santos, Sérgio Henrique Souza, Gomez, Ricardo Santiago, de-Paula, Alfredo Maurício Batista, Guimarães, André Luiz Sena
Published in International journal of surgical pathology (01.02.2015)
Published in International journal of surgical pathology (01.02.2015)
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