A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS) by Fernanda Tenório, Carolina Fischinger Moura de Souza

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Glycogen Storage Diseases by Terry G. J. Derks MD, PhD, Carolina Fischinger Moura de Souza MD, PhD

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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 by Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani

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The molar tooth sign and the bat wing appearance in Joubert syndrome by Matheus Dorigatti Soldatelli, Natália Henz Concatto, Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Juliano Adams Perez, Juliana Ávila Duarte

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The molar tooth sign and the bat wing appearance in Joubert syndrome by Matheus Dorigatti Soldatelli, Natália Henz Concatto, Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Juliano Adams Perez, Juliana Ávila Duarte

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c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family by Vitor G.L. Dantas, Karina Lezirovitz, Guilherme L. Yamamoto, Carolina Fischinger Moura de Souza, Simone Gomes Ferreira, Regina C. Mingroni-Netto

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c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family by Vitor G.L. Dantas, Karina Lezirovitz, Guilherme L. Yamamoto, Carolina Fischinger Moura de Souza, Simone Gomes Ferreira, Regina C. Mingroni-Netto

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Precision Medicine for Lysosomal Disorders by Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani

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Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients by Erica Leitao Ermel, Lauriane Caroline Carneiro, Carolina Fischinger Moura de Souza, Ana Chrystina de Souza Crippa, Maria Teresa Vieira Sanseverino, Salmo Raskin

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Tuberculous meningitis: evaluation of polymerase chain reaction (PCR) as a diagnostic tool – a pilot study. by Guilherme Geib, José Miguel Dora, Rafael Chakr, Fernanda de Paris, Alice Beatriz Mombach, Larissa Lutz, Carolina Fischinger Moura de Souza, Luciano Goldani

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Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial Psycothic syndrome developing into dementia as a clinical manifestation of mitoch... by Luiz Felipe Rocha Vasconcellos, Ana Claudia Celestino Leite, José Luis Sá Cavalcanti, Denise Madeira Moreira, Denise Feijó, Carolina Fischinger Moura de Souza

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Diagnosis of Disseminated Toxoplasmosis by Polymerase Chain Reaction in Bronchoalveolar Lavage Fluid of a Patient with AIDS by Jose Miguel Dora, Guilherme Geib, Fernanda de-Paris, Alice Beatriz Machado, Tania Weber Furlanetto, Carolina Fischinger Moura de Souza, Rodrigo Pires dos Santos

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The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients by Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Juliana Maria Fagundes Verch, Bruna Bento dos Santos, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz

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Polymerase chain reaction as a useful and simple tool for rapid diagnosis of tuberculous meningitis in a Brazilian tertiary care hospital by José Miguel Dora, Guilherme Geib, Rafael Chakr, Fernanda de Paris, Alice Beatriz Mombach, Larissa Lutz, Carolina Fischinger Moura de Souza, Luciano Z. Goldani

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Lysosomal diseases: Overview on current diagnosis and treatment by Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani

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Correction: Hepatic glycogen storage diseases are associated to microbial dysbiosis. by Karina Colonetti, Bruna Bento Dos Santos, Tatiéle Nalin, Carolina Fischinger Moura de Souza, Eric W Triplett, Priscila Thiago Dobbler, Ida Vanessa Doederlein Schwartz, Luiz Fernando Wurdig Roesch

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Hepatic glycogen storage diseases are associated to microbial dysbiosis. by Karina Colonetti, Bruna Bento Dos Santos, Tatiéle Nalin, Carolina Fischinger Moura de Souza, Eric W Triplett, Priscila Thiago Dobbler, Ida Vanessa Doederlein Schwartz, Luiz Fernando Wurdig Roesch

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Leigh syndrome global patient registry: uniting patients and researchers worldwide by Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi, Saima Kayani

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Maple syrup urine disease in Brazil: a panorama of the last two decades by Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

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Maple syrup urine disease in Brazil: a panorama of the last two decades by Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

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