Sunday, April 27, 2014

Anaesthesia for correction of scoliosis in pediatric patient with Friedreich‘s ataxia

Anaesthesia for correction of scoliosis in pediatric patient with Friedreich‘s ataxia. G.L. Agámez Medina, E.J. Pantin, J. Lorthé Jr., P.J. Therrien, Revista Española de Anestesiología y Reanimación, Available online 26 April 2014, ISSN 0034-9356, http://dx.doi.org/10.1016/j.redar.2014.03.001.

Anestesia para corrección de escoliosis en paciente pediátrico con ataxia de Friedreich. Caso clínico

Keywords: Ataxia de Friedreich; Anestesia; Anestesia total intravenosa; Miocardiopatía hipertrófica; Diabetes; Escoliosis; Friedreich's ataxia; Anesthesia; Total intravenous anesthesia; Hypertrophic cardiomyopathy; Diabetes; Scoliosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschmann, Parkinsonism & Related Disorders, Available online 26 April 2014, ISSN 1353-8020, http://dx.doi.org/10.1016/j.parkreldis.2014.04.018.

Keywords: Friedreich Ataxia; Point Mutation; Disease Progression; Hemochromatosis; Genetic Counseling