Avaliação das anomalias clínico-funcionais na doença de Pompe: Relato de Caso

by Paulo R.V. Quemelo, Charles M. Lourenço, Ana P.O. Borges, Marisa A. Brunherotti, Luiz C. Peres
Published 2013-09-01

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

by Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante
Published 2007-03-01

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

by Francyne Kubaski, Zackary M. Herbst, Danilo A.A. Pereira, Camilo Silva, Christine Chen, Paul W.L. Hwu, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Published 2021-06-01

Quality of life in patients with Charcot-Marie-Tooth disease type 1A Análise da qualidade de vida de pacientes com a doença de Charcot-Marie-Tooth tipo 1A

by Juliana B. Taniguchi, Valéria M.C. Elui, Flávia L. Osório, Jaime E.C. Hallak, José A.S. Crippa, João P. Machado-de-Sousa, Leonardo M. Kebbe, Charles M. Lourenço, Raquel M. Scarel-Caminaga, Wilson Marques Jr
Published 2013-06-01

Quality of life in patients with Charcot-Marie-Tooth disease type 1A

by Juliana B. Taniguchi, Valeria M.C. Elui, Flavia L. Osorio, Jaime E.C. Hallak, Jose A.S. Crippa, Joao P. Machado-de-Sousa, Leonardo M. Kebbe, Charles M. Lourenco, Raquel M. Scarel-Caminaga, Wilson Marques Jr
Published 2013-06-01

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

by Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Published 2020-06-01

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

by Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen
Published 2012-01-01

Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008

by André Luiz C. Righetto, Marlene Fátima Turcato, José Nilson N. Anselmo, Maria Celeste D. Jotha, Cristiane D. Santos, Daniel F. Garcia, Emanuele A. B. Silveira, Charles M. Lourenço, Regina Sawamura, José S. Camelo Junior, Maria Inez M. Fernandes, Cláudia F. R. Sobreira, Lea Maria Z. Maciel, Carolina A.R. Funayama, João M. Pina Neto
Published 2010-12-01

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Published 2017-01-01

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Published 2017-01-01

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

by Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Published 2021-04-01

Diagnosis and Management of Classical Homocystinuria in Brazil

by Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Published 2018-08-01