Identification of mutations in Colombian patients affected with Fabry disease
Uribe, Alfredo, Mateus, Heidi Eliana, Prieto, Juan Carlos, Palacios, Maria Fernanda, Ospina, Sandra Yaneth, Pasqualim, Gabriela, da Silveira Matte, Ursula, Giugliani, Roberto
Published in Gene (15.12.2015)
Published in Gene (15.12.2015)
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Journal Article
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
Niño, Mónica Yasmín, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Kroos, Marian A., Ospina, Sandra Yaneth, Mejía, Juan Fernando, Uribe, Jesús Alfredo, Reuser, Arnold J. J., Laissue, Paul
Published in JIMD Reports - Case and Research Reports, 2012/4 (01.01.2013)
Published in JIMD Reports - Case and Research Reports, 2012/4 (01.01.2013)
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Book Chapter
Journal Article
Consenso colombiano de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría
Baquero Rodriguez, Richard, Serrano Gayubo, Ana Katherina, Prieto Rivera, Juan Carlos, Cardenas Aguilera, Juan Guillermo, Rodríguez Cuéllar, Carmen Inés, Reina Ávila, Maria Fernanda, Estévez Capacho, Mayra Alexandra, Mateus, Heidy, Valencia González, Maylin, Chacón Acevedo, Kelly Rocío, Gutiérrez Sepúlveda, Maria Paula, Germain, Dominique P, Politei, Juan, Fainboim, Alejandro Fabian, Cerón Rodríguez, Magdalena, Cabrera, Gustavo, Rodríguez Ibarra, Edicson, Carrascal Guzmán, Martha Isabel, Martínez Cáceres, Lida Esperanza, Ospina Lagos, Sandra Yaneth, Trimarchi, Hernán, Liern, Miguel
Published in Revista ciencias de la salud (11.10.2023)
Published in Revista ciencias de la salud (11.10.2023)
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Journal Article
ANÁLISIS CLÍNICO Y MOLECULAR DE UNA PACIENTECON PENTASOMIA DEL CROMOSOMA X
MATEUS ARBELAEZ, HEIDI ELIANA, SILVA ALDANA, CLAUDIA TAMAR, NORA CONSTANZA, CONTRERAS BRAVO, OSPINA, SANDRA YANETH, FONSECA MENDOZA, DORA JANETH
Published in Acta biológica colombiana (01.08.2010)
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Published in Acta biológica colombiana (01.08.2010)
Journal Article
Mucopilisacaridosis tipo I Hurler - Scheie: Reporte de caso
Sandra Yaneth Ospina, Harold Arevalo, Harvi Velazco, Tatiana Pineda
Published in Iatreia (01.11.2010)
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Published in Iatreia (01.11.2010)
Journal Article