Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease von Scaini, Giselli, Tonon, Tássia, Moura de Souza, Carolina F., Schuck, Patricia F., Ferreira, Gustavo C., Quevedo, João, Neto, João Seda, Amorim, Tatiana, Camelo, Jose S., Margutti, Ana Vitoria Barban, Hencke Tresbach, Rafael, Sperb-Ludwig, Fernanda, Boy, Raquel, de Medeiros, Paula F. V., Schwartz, Ida Vanessa D., Streck, Emilio Luiz

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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients von Borsatto, Taciane, Sperb-Ludwig, Fernanda, Pinto, Louise L C, Luca, Gisele R De, Carvalho, Francisca L, Souza, Carolina F M De, Medeiros, Paula F V De, Lourenço, Charles M, Lo Filho, Reinaldo, Neto, Eurico C, Bernardi, Pricila, Leistner-Segal, Sandra, Schwartz, Ida V

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Identification of MPS clusters in Latin America: An opportunity for targeted health care programs von 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

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Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test von Monteiro, Rejane A.C., de Freitas, Mariana L., Vianna, Gabrielle S., de Oliveira, Valdirene T., Pietra, Rafaella X., Ferreira, Luana C.A., Rocha, Patrícia P.O., da S. Gonçalves, Michele, da C. César, Giovana, de S. Lima, Joziele, Medeiros, Paula F.V., Mazzeu, Juliana F., Jehee, Fernanda S.

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Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes von Vianna, Gabrielle S., Freitas, Mariana L., de Oliveira, Valdirene T., Pietra, Rafaella X., da S. Gonçalves, Michele, Rocha, Patrícia P.O., Monteiro, Rejane A.C., Ferreira, Luana C.A., Xavier, Rosana R., Carvalho, Andréia M., de M. Lima, Patrícia R., Monteiro, Maria Augusta N.P., Mateo, Elvis C., Giannetti, Juliana G., da C. César, Giovana, de S. Lima, Joziele, Medeiros, Paula F.V., Jehee, Fernanda S.

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