Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

por Lourenço, Charles M, Pessoa, Andre, Mendes, Carmen C, Rivera‐Nieto, Carolina, Vergara, Diane, Troncoso, Mónica, Gardner, Emily, Mallorens, Francisca, Tavera, Lina, Lizcano, Luis A, Atanacio, Nora, Guelbert, Norberto, Specola, Norma, Mancilla, Nury, de Souza, Carolina F M, Mole, Sara E
Publicado 2020

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

por Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Publicado 2018

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

por 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
Publicado 2021