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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
(Wiley, 2020)
Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder
caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive ...
Déficit cognitivo espacial está relacionado com alteração na concentração do canal aniônico dependente de voltagem no tálamo de ratos deficientes em tiamina
(Universidade Federal de Minas GeraisUFMG, 2015-09-18)
Thiamine deficiency (TD) results in biochemical dysfunction that can culminate with the death of neurons, characterizing the process of neurodegeneration, such as occur in Wernicke-Korsakoff's syndrome. Thiamine or vitamin ...
Plan de fortalecimiento de la calidad de servicio del transporte público intraprovincial en los cantones El Chaco y Quijos, provincia de Napo
(Escuela Superior Politécnica de Chimborazo, 2020-11-12)
This research aims to propose a plan to strengthen the quality of service of intraprovincial public transportation in cantons called El Chaco and Quijos, through quality indicators to improve its operations and satisfy the ...
Effects of L-Arginine Supplementation on Lactating Mares and the Development of Foals
(Universidade Federal do Rio Grande do Sul, 2016)
Caracterización clínica y genética de una muestra de pacientes colombianos con Epilepsia y análisis de posibles factores moleculares intervinientes en la respuesta a fármacos
(Bogotá : Universidad de Ciencias Aplicadas y Ambientales, 2020Facultad de Ciencias de la SaludMedicina, 2020)
Epilepsy is defined by the International League Against Epilepsy (ILAE) as a chronic disease characterized by a predisposition to the occurrence of epileptic seizures that affect around 50 million people according to WHO, ...