Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review von Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de Franca B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecilia

Volltext

Agalsidase beta and infusion-related reactions: Findings in Brazilian patients von Curiati, Marco A., Mendes, Carmen Silvia C., Aranda, Carolina S., Maia, Murilo, Ensina, Luis Felipe, Solé, Dirceu, Martins, Ana Maria

Volltext

Cholesteryl ester storage disease: report of three cases von Curiati, Marco A., Kyosen, Sandra O., Mendes, Carmen Silvia C., Aranda, Carolina S., Jimenez, Debora Adriana P., Barata, Mariangela Cristina C., Patricio, Francy S., Martins, Ana Maria

Volltext

Enzyme replacement therapy for mucopolysaccharidosis type II: Experience from a Brazilian reference center von Curiati, Marco A., Mendes, Carmen Silvia C., Rand, Maret H., Canossa, Sueli, Goncalves, Cintia M., Silva, Rosangela M., Silva, José, Oliveira, Renata B., Kyosen, Sandra O., Aranda, Carolina S., Martins, Ana Maria

Volltext

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review von Perrone, Eduardo, Thiago R. Cavole, Oliveira, Manuella G., Virmond, Luiza Do A., Silva, Marina De França B., Soares, Maria De Fatima F., Iglesias, Simone Brasil De O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília

Volltext bestellen

Resistance exercise leading to failure versus not to failure: effects on cardiovascular control von De Souza, Jéssica Cardoso, Tibana, Ramires Alsamir, Cavaglieri, Claudia Regina, Vieira, Denis César Leite, De Sousa, Nuno Manuel Frade, Mendes, Felipe Augusto Dos Santos, Tajra, Vitor, Martins, Wagner Rodrigues, De Farias, Darlan Lopes, Balsamo, Sandor, Navalta, James Wilfred, Campbell, Carmen Silvia Grubert, Prestes, Jonato

Volltext

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 von Pérez-Jurado, Luis A., Cáceres, Alejandro, Balagué-Dobón, Laura, Esko, Tonu, López de Heredia, Miguel, Quintela, Inés, Cruz, Raquel, Lapunzina, Pablo, Carracedo, Ángel, González, Juan R.

Volltext

Study protocol for the multicentre cohorts of Zika virus infection in pregnant women, infants, and acute clinical cases in Latin America and the Caribbean: the ZIKAlliance consorti... von Avelino-Silva, Vivian I, Mayaud, Philippe, Tami, Adriana, Miranda, Maria C, Rosenberger, Kerstin D, Alexander, Neal, Nacul, Luis, Segurado, Aluisio, Pohl, Moritz, Bethencourt, Sarah, Villar, Luis A, Viana, Isabelle F T, Rabello, Renata, Soria, Carmen, Salgado, Silvia P, Gotuzzo, Eduardo, Guzmán, María G, Martínez, Pedro A, López-Gatell, Hugo, Hegewisch-Taylor, Jennifer, Borja-Aburto, Victor H, Gonzalez, Cesar, Netto, Eduardo M, Saba Villarroel, Paola M, Hoen, Bruno, Brasil, Patrícia, Marques, Ernesto T A, Rockx, Barry, Koopmans, Marion, de Lamballerie, Xavier, Jaenisch, Thomas

Volltext

PERMANENT GENETIC RESOURCES NOTE Permanent Genetic Resources added to Molecular Ecology Resources Database 1 December 2012-31 January 2013 von ARRANZ, Silvia E, AVARRE, Jean-Christophe, DANIEL, Carla, DEJEAN, Alain, DHARANEEDHARAN, Subramanian, DIAZ, Juan, MAN DU, DURAND, Jean-Dominique, DZIADEK, Jaroslaw, FORESTI, F, PENG-CHENG, F. U, GAO, Qing-Bo, BALASUNDARAM, Chellam, GARCIA, Graciela, GAUFFRE-AUTELIN, Pauline, GIOVINO, Antonio, GOSWAMI, Mukunda, GUARINO, Carmine, GUERRA-VARELA, Jorge, GUTIERREZ, Veronica, HARRIS, D. J, HEO, Moon-Soo, KHAN, Gulzar, BOUZA, Carmen, KIM, Mija, LAKRA, Wazir S, LAUTH, Jérémie, LECLERCQ, Pierre, LEE, Jeonghwa, LEE, Seung-Ho, LEE, Soohyung, LEE, Theresa, LI, Yin-Hu, HONGBO LIU, CALCATERRA, Nora B, SHUFANG LIU, MALE, Pierre-Jean G, RISHI PAL MANDHAN, MARTINEZ, Paulino, MAYER, Veronika E, MENDEL, Jan, MENDES, N. J, MENDONCA, F. F, MINIAS, Alina, MINIAS, Piotr, CEZILLY, Frank, OH, Kyeong-Suk, OLIVEIRA, C, ORIVEL, Jérôme, ORSINI, L, PARDO, Belén G, PERERA, A, PROCACCINI, G, RATO, C, CHEN, Shi-Long, CIPRIANI, Guido, CRUZ, V. P, D'ESPOSITO, D

Volltext