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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: Neuronal ceroid lipofuscinoses as a model disorder
(Elsevier Science, 2015-10)
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 Training ...
Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
(Universidad de la SabanaEnfermeríaFacultad de Enfermería y Rehabilitación, 2015-05-15)
A partir del descubrimiento del genoma humano en el año 2003, que tuvo como propósito descifrar el código genético de los cromosomas, la atención de la salud está cambiando en aspectos relacionados con la prevención de ...
Funcionamiento neuropsicológico de un adolescente diagnósticado con síndrome de Maroteaux-Lamy.
(Corporación Universitaria Minuto de DiosUNIMINUTO Rectoría Sede Principal, 2017-05)
Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity
(Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), 2021-06-14)
Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through ...
Disease recurrence in paediatric renal transplantation
(Springer, 2009-11-01)
Renal transplantation (Tx) is the treatment of choice for end-stage renal disease. the incidence of acute rejection after renal Tx has decreased because of improving early immunosuppression, but the risk of disease recurrence ...
Influence of CYP1A1*2C on High Triglyceride Levels in Female Mexican Indigenous Tarahumaras
(Elsevier, 2014-07)
Background and Aims
High triglyceride levels are closely related to cardiovascular disease. Its development lays on age, diet, physical activity, ethnicity and genetic factors. Among the last, the CYP1A1*2C allele has an ...