GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Lodder, Elisabeth M., De Nittis, Pasquelena, Koopman, Charlotte D., Wiszniewski, Wojciech, Moura de Souza, Carolina Fischinger, Lahrouchi, Najim, Guex, Nicolas, Napolioni, Valerio, Tessadori, Federico, Beekman, Leander, Nannenberg, Eline A., Boualla, Lamiae, Blom, Nico A., de Graaff, Wim, Kamermans, Maarten, Cocciadiferro, Dario, Malerba, Natascia, Mandriani, Barbara, Akdemir, Zeynep Hande Coban, Fish, Richard J., Eldomery, Mohammad K., Ratbi, Ilham, Wilde, Arthur A.M., de Boer, Teun, Simonds, William F., Neerman-Arbez, Marguerite, Sutton, V. Reid, Kok, Fernando, Lupski, James R., Reymond, Alexandre, Bezzina, Connie R., Bakkers, Jeroen, Merla, Giuseppe
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
Pinheiro, Franciele Cabral, Ligabue-Braun, Rodrigo, Siqueira, Ana Cecília Menezes de, Matuella, Camila, Souza, Carolina Fischinger Moura de, Monteiro, Fabíola Paoli, Kok, Fernando, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
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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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Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
Malfatti, Edoardo, Bugiani, Marianna, Invernizzi, Federica, de Souza, Carolina Fischinger-Moura, Farina, Laura, Carrara, Franco, Lamantea, Eleonora, Antozzi, Carlo, Confalonieri, Paolo, Sanseverino, Maria Teresa, Giugliani, Roberto, Uziel, Graziella, Zeviani, Massimo
Published in Brain (London, England : 1878) (01.07.2007)
Published in Brain (London, England : 1878) (01.07.2007)
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Journal Article
Look carefully to the heels! A potentially treatable cause of spastic paraplegia
Saute, Jonas Alex, Giugliani, Roberto, Merkens, Louise S., Chiang, John (Pei-Wen), DeBarber, Andrea E., de Souza, Carolina Fischinger Moura
Published in Journal of inherited metabolic disease (01.03.2015)
Published in Journal of inherited metabolic disease (01.03.2015)
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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
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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CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.
Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
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Maple syrup urine disease in Brazil: a panorama of the last two decades
Herber, Silvani, Schwartz, Ida Vanessa D., Nalin, Tatiéle, Oliveira Netto, Cristina Brinkmann, Camelo Junior, José Simon, Santos, Mara Lúcia, Ribeiro, Erlane Marques, Schüler-Faccini, Lavinia, de Souza, Carolina Fischinger Moura
Published in Jornal de pediatria (01.05.2015)
Published in Jornal de pediatria (01.05.2015)
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Journal Article
Hepatic glycogen storage diseases are associated to microbial dysbiosis
Colonetti, Karina, Bento Dos Santos, Bruna, Nalin, Tatiéle, Moura de Souza, Carolina Fischinger, Triplett, Eric W, Dobbler, Priscila Thiago, Schwartz, Ida Vanessa Doederlein, Roesch, Luiz Fernando Wurdig
Published in PloS one (02.04.2019)
Published in PloS one (02.04.2019)
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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto
Published in International journal for equity in health (13.01.2023)
Published in International journal for equity in health (13.01.2023)
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Journal Article
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
Pinto E Vairo, Filippo, Conboy, Erin, de Souza, Carolina Fischinger Moura, Jones, Amie, Barnett, Sarah S, Klee, Eric W, Lanpher, Brendan C
Published in Pediatrics (Evanston) (01.12.2018)
Published in Pediatrics (Evanston) (01.12.2018)
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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
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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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souza, Carolina Fischinger Moura, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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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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Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions
Aranda, Carolina Sanchez, Aun, Marcelo Vivolo, Souza, Carolina Fischinger Moura de, Pinto, Louise Lapagesse de Camargo, Porras-Hurtado, Gloria Liliana, Salgado, Omar Francisco Sierra, Arantes, Rodrigo Rezende, Martins, Ana Maria, Solé, Dirceu
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.03.2022)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.03.2022)
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