Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease von Alonso, Martina, Zabala, Cristina, Mansilla, Santiago, De Brun, Laureana, Martínez, Jennyfer, Garau, Mariela, Rivas, Gabriela, Acosta, Cecilia, Lens, Daniela, Cerisola, Alfredo, Graña, Martín, Naya, Hugo, Puentes, Rodrigo, Spangenberg, Lucía, Raggio, Víctor, Lemes, Aída, Castro, Laura, Quijano, Celia

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An international classification of inherited metabolic disorders (ICIMD) von Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America von Giugliani, Roberto, Villarreal, Martha Luz Solano, Valdez, C Araceli Arellano, Hawilou, Antonieta Mahfoud, Guelbert, Norberto, Garzón, Luz Norela Correa, Martins, Ana Maria, Acosta, Angelina, Cabello, Juan Francisco, Lemes, Aída, Santos, Mara Lucia Schmitz Ferreira, Amartino, Hernán

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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy von Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I., Bernard, Geneviève

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3697G>A in MT-ND1 is a causative mutation in mitochondrial disease von Spangenberg, Lucía, Graña, Martín, Greif, Gonzalo, Suarez-Rivero, Juan M, Krysztal, Karina, Tapié, Alejandra, Boidi, María, Fraga, Valeria, Lemes, Aída, Gueçaimburú, Rosario, Cerisola, Alfredo, Sánchez-Alcázar, José A, Robello, Carlos, Raggio, Victor, Naya, Hugo

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project von Abdulrahman, Mahera, Al Nuaimi, Shahira Ahmed, Allen, Jennifer J, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Camilot, Marta, Campbell, Carlene, Cassanello, Michela, Ramos, Alfredo Chardon, Chien, Yin-Hsiu, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Currier, Robert, Czuczy, Noemi, de Sain-Van der Velden, Monique G, Pecellin, Carmen Delgado, Di Stefano, Cristina Maria, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Elvers, Bert, Eaton, Roger, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Franzson, Leifur, Garcia, Luciana R C, Gerace, Rosemarie, Greed, Lawrence C, Grier, Robert, Gulamali-Majid, Fizza, Hagar, Arthur F, Haslip, Christa, He, Miao, Hietala, Amy, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ivanova, Maria, Jacox, Ward B, Kasper, David, Klopper, Brenda, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lemes, Aida, Lesko, Barbara, Lindner, Martin, Maffitt, Neil, Magee, J Fergall, Manos, Shawn, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayne, Philip, McClure, Julie, Morrissey, Mark A, Norgaard-Pedersen, Bent, Ojodu, Jelili, Park, Hyung-Doo, Pasquini, Elisabetta, Pass, Kenneth A, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Quesada, Jonessy, Randell, Edward, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Juan-Fita, María Jesús, Rutledge, S Lane, Ryu, Euijung, Santiago-Borrero, Pedro, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Shone, Scott M, Tanyalcin, Tijen, Domingos, Mouseline Torquado, Turner, Kimberley, Vincent, Marie-Francoise, Webster, Dianne, Weiss, Sheila, Wiley, Veronica, Willis, Sharon A, Yahyaoui, Raquel

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Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey von Poloni, Soraia, Dos Santos, Bruna Bento, Chiesa, Ana, Specola, Norma, Pereyra, Marcela, Saborío-Rocafort, Manuel, Salazar, María Florencia, Leal-Witt, María Jesús, Castro, Gabriela, Peñaloza, Felipe, Wong, Sunling Palma, Porras, Ramsés Badilla, Paranza, Lourdes Ortiz, Sanabria, Marta Cristina, Amieva, Marcela Vela, Morales, Marco, Naranjo, Amanda Rocío Caro, Mahfoud, Antonieta, Colmenares, Ana Rosa, Lemes, Aida, Sotillo-Lindo, José Fernando, Perez, Ceila, Rey, Laritza Martínez, Torriente, Georgina María Zayas, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein, Cornejo, Veronica

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Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings von Medici, Conrado, Varacchi, Claudio, Gonzalez, Gabriel, Lemes, Aida, Cerisola, Alfredo, Pedemonte, Virginia, Blau, Nenad

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Care model for phenylketonuria (PKU) in Uruguay von Aida Lemes, Cecilia Queijo, Cristina Zabala

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Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family von Lemes, Aida, Blasi, Paola, Gonzales, Gabriel, Russi, Maria E., Quadrelli, Roberto, Novelletto, Andrea, Malaspina, Patrizia

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Tres casos de enfermedad de Gaucher tipo I von Aída Lemes, Berta Murieda, Raúl Gabus, María Jesús Roselli, Mariela Larrandaburu, Alicia Vaglio

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Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessive disorder von Quadrelli, Roberto, Vaglio, Alicia, Reyno, Soraya, Lemes, Aida, Salazar, Denise, Lachman, Ralph S., Wilcox, William R.

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Aciduria glutárica tipo I von Ana Barreiro, Andrea Rey, Gabriel González, Aída Lemes, Álvaro Galiana, Leopoldo Peluffo

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Experiencia metodológica en pesquisa neonatal de hiperfenilalaninemias von María Jesús Roselli, Aída Lemes, Soraya Reyno, Alicia Vaglio, Roberto Quadrelli

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Muerte inesperada del lactante. Diagnóstico de situación en la ciudad de Montevideo von Gutiérrez, Carmen, Palenzuela, Sylvia, Rodríguez, Ángeles, Balbela, Beatriz, Rubio, Ivonne, Lemes, Aída, Scavone, Cristina, Kanopa, Virginia, Ramos Nicolini, Stella

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Muerte inesperada del lactante: Diagnóstico de situación en la ciudad de Montevideo von Gutiérrez, Carmen, Palenzuel, Sylvia, Rodríguez, Ángeles, Balbela, Beatriz, Rubio, Ivonne, Lemes, Aída, Scavone, Cristina, Kanopa, Virginia, Ramos N, Stella

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Muerte inesperada del lactante: Diagnóstico de situación en la ciudad de Montevideo von Gutiérrez, Carmen, Palenzuel, Sylvia, Rodríguez, Ángeles, Balbela, Beatriz, Rubio, Ivonne, Lemes, Aída, Scavone, Cristina, Kanopa, Virginia, Ramos N, Stella

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Evolution of iron overload in patients with low-risk myelodysplastic syndrome: iron chelation therapy and organ complications von Remacha, Ángel F., Arrizabalaga, Beatriz, Villegas, Ana, Durán, María Soledad, Hermosín, Lourdes, de Paz, Raquel, Garcia, Marta, Campelo, Maria Diez, Sanz, Guillermo

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