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Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica
(Universidad Militar Nueva Granada, 2014)
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 ...
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
(Universidad del Zulia, 2013)
Evaluación neuropsicológica en miembros de una familia con mutación de novo para la enfermedad de Fabry en Bogotá, Colombia.
(Corporación Universitaria Minuto de DiosPsicología, 2017)
La Enfermedad de Fabry es un trastorno genético poco frecuente reconocido en Colombia como una enfermedad rara y huérfana debido a la deficiencia de la enzima hidrolasa alfa-galactosidasa, la cual ocasiona acumulación de ...
Triagem neonatal em Minas Gerais: análise do contexto histórico e político-institucional com enfoque nas estratégias empregadas e resultados alcançados
(Universidade Federal de Minas GeraisUFMG, 2015-04-17)
Newborn screening (NBS) is a set of procedures and practices in public health, which presents relatively new features in the traditional health system context. It is currently established in almost all continents. NBS ...
Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2012-12-01)
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
(1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...
Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake
(SpringerDordrechtHolanda, 2008)
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 ...