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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
(Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease., 2015)
Background: The Argentinean programwas initiatedmore than a decade ago as the first experience of systematic
translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and
underdiagnoses ...
Enfermedad de Gaucher en Argentina. Un informe del Registro Internacional de Gaucher y del Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher
(2013)
La Enfermedad de Gaucher por su baja frecuencia está incluida dentro de las enfermedades huérfanas. En 1991 comenzó el ingreso de pacientes en el Registro Internacional de Gaucher. En 1992 se incorporaron los primeros dos ...
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.
(Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease., 2015)
This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal
Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's ...