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
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
Josahkian, Juliana Alves, Brusius‐Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Leistner‐Segal, Sandra, Málaga, Diana Rojas, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele Barbosa, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Erlane Marques, Kim, Chong Ae, Siqueira, Ana Cecília Menezes, Santos, Mara Lucia, Valle, Daniel Almeida, Silva, Raquel Tavares Boy, Horovitz, Dafne Dain Gandelman, Medeiros, Paula Frassinetti Vasconcelos, Souza, Carolina Fischinger Moura, Giuliani, Liane de Rosso, Miguel, Diego Santana Chaves Geraldo, Santana‐da‐Silva, Luiz Carlos, Galera, Marcial Francis, 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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Journal Article
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
Montenegro, Yorran Hardman Araújo, Souza, Carolina Fischinger Moura, Kubaski, Francyne, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Leistner‐Segal, Sandra, Facchin, Ana Carolina Brusius, Medeiros, Fernanda S., Giugliani, Luciana, 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, Moreira, Maria Lucia Castro, Montano, Hector Quintero, Baldo, Guilherme, Giugliani, Roberto
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Diagnosing mucopolysaccharidosis IVA
Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Journal Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center
Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, de Bitencourt, Fernanda Hendges, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de pediatria (01.11.2020)
Published in Jornal de pediatria (01.11.2020)
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Journal Article
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Magalhães, Ana Paula Pereira Scholz de, Sebastião, Fernanda Medeiros, Bender, Fernanda, Mari, Jurema Fátima De, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Málaga, Diana Rojas, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
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Journal Article
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases
Vieira, Taiane Alves, Trapp, Franciele Barbosa, Souza, Carolina Fischinger Moura de, Faccini, Lavínia Schuler, Jardim, Laura Bannach, Schwartz, Ida Vanessa Doederlein, Riegel, Mariluce, Vargas, Carmen Regla, Burin, Maira Graeff, Leistner-Segal, Sandra, Ashton-Prolla, Patrícia, Giugliani, Roberto
Published in Genetics and molecular biology (2019)
Published in Genetics and molecular biology (2019)
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Journal Article
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, Souza, Carolina Moura Fischinger de, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto
Published in JIMD reports (01.03.2022)
Published in JIMD reports (01.03.2022)
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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
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
Sebastião, Fernanda Medeiros, Burin, Maira Graeff, Civallero, Gabriel, Tirelli, Kristiane Michelin, Sitta, Angela, Coelho, Daniella de Moura, Vargas, Carmen Regla, Wajner, Moacir, Giugliani, Roberto, Bitencourt, Fernanda Hendges de, Schwartz, Ida Vanessa Doederlein
Published in Journal of inborn errors of metabolism and screening (2020)
Published in Journal of inborn errors of metabolism and screening (2020)
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Journal Article
Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
Ribas, Graziela Schmitt, De Mari, Jurema Fátima, Civallero, Gabriel, de Souza, Heryk Motta, Burin, Maira Graeff, Vargas, Carmen Regla, Giugliani, Roberto
Published in Journal of inborn errors of metabolism and screening (2017)
Published in Journal of inborn errors of metabolism and screening (2017)
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Journal Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, Bitencourt, Fernanda Hendges de, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
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Journal Article
Quantification of glycosaminoglycans by liquid chromatography tandem mass spectrometry is a useful tool for screening of GlcNAc-phosphotransferase deficient patients
Ludwig, Nataniel, Kubaski, Francyne, Sperb-Ludwig, Fernanda, Burin, Maira Graeff, Silva, Thiago Oliveira, de Oliveira Poswar, Fabiano, Souza, Carolina Fischinger Moura, Giugliani, Roberto, Schwartz, Ida V.D.
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients
Hammerschmidt, Tatiane Grazieli, de Oliveira Schmitt Ribas, Graziela, Saraiva-Pereira, Maria Luiza, Bonatto, Márcia Polese, Kessler, Rejane Gus, Souza, Fernanda Timm Seabra, Trapp, Franciele, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Giugliani, Roberto, Vargas, Carmen Regla
Published in International journal of developmental neuroscience (01.05.2018)
Published in International journal of developmental neuroscience (01.05.2018)
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Journal Article
MPS Brazil Network: A summary of all mucopolysaccharidosis type IIIB patients
Kubaski, Francyne, Zambrano, Marina, Giugliani, Luciana, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Leistner-Segal, Sandra, Brusius-Facchin, Ana Carolina, Castro, Maria Lucia, Quintero Montano, Hector P., Giugliani, Roberto
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Identification of MPS clusters in Latin America: An opportunity for targeted health care programs
Kubaski, Francyne, Gameleira, Flávia, de Ferrán, Ceila Perez, Ramirez, Joany, Jaquez, Francisca, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Lopes, Simone S., de Medeiros, Paula F.V., Acosta, Angelina X., Sandes, Kiyoko A., Castro Moreira, Maria L., Quintero Montano, Hector P., Solano Villareal, Martha L., Barroso Sandoval, Heidy M., Bareiro, Rodolfo, Cossio, Gladys, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Mucopolysaccharidosis Type I in a Dog
Amaral, Andreza da Silva, De Sales, Nathali Adrielli Agassi, Rosado, Isabel Rodrigues, Giugliani, Roberto, Burin, Maira Graeff, Baldo, Guilherme, Martin, Ian, Alves, Endrigo Gabellini Leonel
Published in Acta scientiae veterinariae (01.01.2021)
Published in Acta scientiae veterinariae (01.01.2021)
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Journal Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, Bitencourt, Fernanda Hendges de, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
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Journal Article
Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network
Federhen, Andressa, Poswar, Fabiano Oliveira, Trapp, Franciele Barbosa, da Rosa, Heluísa Castagnino, Silva, Laysla Pedelhes, Rocha, Daniele Lima, Burin, Maira Graeff, Guidobono, Regis R, De Mari, Jurema F, Bitencourt, Fernanda, Leistner-Segal, Sandra, Facchin, Ana Carolina Brusius, Matte, Ursula Silveira, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Long-term reestablishment of alpha-L-iduronidase activity in MPS I fibroblasts after non-viral gene transfer
Fabiano de Oliveira Poswar, Fabiana Quoos Mayer, Maira Graeff Burin, Ursula da Silveira Matte, Roberto Giugliani, Guilherme Baldo
Published in Clinical and Biomedical Research (01.12.2017)
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Published in Clinical and Biomedical Research (01.12.2017)
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